Allele Registry

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Canonical Allele Identifier: CA9043810

Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1432920

ClinVar RCV Id: RCV001982134 RCV003130620

dbSNP Id: rs775018136

ExAC: 19:1401434 C / G

gnomAD v2: 19-1401434-C-G

gnomAD v3: 19-1401435-C-G

gnomAD v4: 19-1401435-C-G

MyVariant Identifiers: chr19:g.1401434C>G (hg19) chr19:g.1401435C>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401435C>G , CM000681.2:g.1401435C>G	GRCh38
NC_000019.9:g.1401434C>G , CM000681.1:g.1401434C>G	GRCh37
NC_000019.8:g.1352434C>G	NCBI36
NG_009785.1:g.5119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.42G>C MANE Select	ENSP00000252288.1:p.Glu14Asp
ENST00000447102.8:c.42G>C	ENSP00000403536.2:p.Glu14Asp
ENST00000640762.1:c.42G>C	ENSP00000492031.1:p.Glu14Asp
ENST00000252288.6:c.42G>C	ENSP00000252288.1:p.Glu14Asp
ENST00000447102.7:c.42G>C	ENSP00000403536.2:p.Glu14Asp
NM_000156.5:c.42G>C	NP_000147.1:p.Glu14Asp
NM_138924.2:c.42G>C	NP_620279.1:p.Glu14Asp
NM_000156.6:c.42G>C MANE Select	NP_000147.1:p.Glu14Asp
NM_138924.3:c.42G>C	NP_620279.1:p.Glu14Asp

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