Canonical Allele Identifier: CA9043617
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 431959
ClinVar RCV Id: RCV000497566 RCV000695868 RCV002305494 RCV002318603
dbSNP Id: rs779931959
ExAC: 19:1398963 C / CCAGGAGGTGAGGTTG
gnomAD v2: 19-1398963-C-CCAGGAGGTGAGGTTG
gnomAD v3: 19-1398964-C-CCAGGAGGTGAGGTTG
gnomAD v4: 19-1398964-C-CCAGGAGGTGAGGTTG
MyVariant Identifiers: chr19:g.1398964_1398978dup (hg19) chr19:g.1398963_1398964insCAGGAGGTGAGGTTG (hg19) chr19:g.1398965_1398979dup (hg38) chr19:g.1398964_1398965insCAGGAGGTGAGGTTG (hg38)
ERepo: CA9043617/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398968_1398982dup , CM000681.2:g.1398968_1398982dup GRCh38
NC_000019.9:g.1398967_1398981dup , CM000681.1:g.1398967_1398981dup GRCh37
NC_000019.8:g.1349967_1349981dup NCBI36
NG_009785.1:g.7575_7589dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.507_521dup MANE Select ENSP00000252288.1:p.Ser173_Trp174insCysAsnLeuThrSer
ENST00000447102.8:c.507_521dup ENSP00000403536.2:p.Ser173_Trp174insCysAsnLeuThrSer
ENST00000591788.3:c.190_204dup
ENST00000640164.1:n.340_354dup
ENST00000640762.1:c.438_452dup ENSP00000492031.1:p.Ser150_Trp151insCysAsnLeuThrSer
ENST00000252288.6:c.507_521dup ENSP00000252288.1:p.Ser173_Trp174insCysAsnLeuThrSer
ENST00000447102.7:c.507_521dup ENSP00000403536.2:p.Ser173_Trp174insCysAsnLeuThrSer
ENST00000591788.2:c.192_206dup ENSP00000466341.2:p.Ser68_Trp69insCysAsnLeuThrSer
NM_000156.5:c.507_521dup NP_000147.1:p.Ser173_Trp174insCysAsnLeuThrSer
NM_138924.2:c.507_521dup NP_620279.1:p.Ser173_Trp174insCysAsnLeuThrSer
NM_000156.6:c.507_521dup MANE Select NP_000147.1:p.Ser173_Trp174insCysAsnLeuThrSer
NM_138924.3:c.507_521dup NP_620279.1:p.Ser173_Trp174insCysAsnLeuThrSer
Search 100 bp 5'
Search 100 bp 3'