Canonical Allele Identifier: CA10652269
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 328346
ClinVar RCV Id: RCV000308431 RCV000310942 RCV000399238 RCV001594960
dbSNP Id: rs659455
gnomAD v2: 19-1397212-T-G
gnomAD v3: 19-1397213-T-G
gnomAD v4: 19-1397213-T-G
MyVariant Identifiers: chr19:g.1397212T>G (hg19) chr19:g.1397213T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397213T>G , CM000681.2:g.1397213T>G GRCh38
NC_000019.9:g.1397212T>G , CM000681.1:g.1397212T>G GRCh37
NC_000019.8:g.1348212T>G NCBI36
NG_008283.1:g.18330T>G
NG_009785.1:g.9341A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.*146A>C MANE Select ENSP00000252288.1:n.*146A>C
ENST00000252288.6:c.*146A>C ENSP00000252288.1:n.*146A>C
NM_000156.5:c.*146A>C NP_000147.1:n.*146A>C
NM_000156.6:c.*146A>C MANE Select NP_000147.1:n.*146A>C
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