Canonical Allele Identifier: CA402994365
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2421360
ClinVar RCV Id: RCV003113020 RCV003482169
dbSNP Id: rs370421531
gnomAD v2: 19-1398963-C-G
gnomAD v3: 19-1398964-C-G
gnomAD v4: 19-1398964-C-G
MyVariant Identifiers: chr19:g.1398963C>G (hg19) chr19:g.1398964C>G (hg38)
ERepo: CA402994365/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398964C>G , CM000681.2:g.1398964C>G GRCh38
NC_000019.9:g.1398963C>G , CM000681.1:g.1398963C>G GRCh37
NC_000019.8:g.1349963C>G NCBI36
NG_009785.1:g.7590G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.522G>C MANE Select ENSP00000252288.1:p.Trp174Cys
ENST00000447102.8:c.522G>C ENSP00000403536.2:p.Trp174Cys
ENST00000591788.3:c.205G>C
ENST00000640164.1:n.355G>C
ENST00000640762.1:c.453G>C ENSP00000492031.1:p.Trp151Cys
ENST00000252288.6:c.522G>C ENSP00000252288.1:p.Trp174Cys
ENST00000447102.7:c.522G>C ENSP00000403536.2:p.Trp174Cys
ENST00000591788.2:c.207G>C ENSP00000466341.2:p.Trp69Cys
NM_000156.5:c.522G>C NP_000147.1:p.Trp174Cys
NM_138924.2:c.522G>C NP_620279.1:p.Trp174Cys
NM_000156.6:c.522G>C MANE Select NP_000147.1:p.Trp174Cys
NM_138924.3:c.522G>C NP_620279.1:p.Trp174Cys
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