Canonical Allele Identifier: CA9043527
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2137773
ClinVar RCV Id: RCV003058489 RCV004070147
dbSNP Id: rs199932947
ExAC: 19:1397364 T / A
gnomAD v2: 19-1397364-T-A
gnomAD v3: 19-1397365-T-A
gnomAD v4: 19-1397365-T-A
MyVariant Identifiers: chr19:g.1397364T>A (hg19) chr19:g.1397365T>A (hg38)
ERepo: CA9043527/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397365T>A , CM000681.2:g.1397365T>A GRCh38
NC_000019.9:g.1397364T>A , CM000681.1:g.1397364T>A GRCh37
NC_000019.8:g.1348364T>A NCBI36
NG_008283.1:g.18482T>A
NG_009785.1:g.9189A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.705A>T MANE Select ENSP00000252288.1:p.Lys235Asn
ENST00000640762.1:c.636A>T ENSP00000492031.1:p.Lys212Asn
ENST00000252288.6:c.705A>T ENSP00000252288.1:p.Lys235Asn
NM_000156.5:c.705A>T NP_000147.1:p.Lys235Asn
NM_000156.6:c.705A>T MANE Select NP_000147.1:p.Lys235Asn
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