Allele Registry

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Canonical Allele Identifier: CA631301061

Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1405401370

gnomAD v2: 19-1401507-C-G

gnomAD v3: 19-1401508-C-G

gnomAD v4: 19-1401508-C-G

MyVariant Identifiers: chr19:g.1401507C>G (hg19) chr19:g.1401508C>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401508C>G , CM000681.2:g.1401508C>G	GRCh38
NC_000019.9:g.1401507C>G , CM000681.1:g.1401507C>G	GRCh37
NC_000019.8:g.1352507C>G	NCBI36
NG_009785.1:g.5046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-32G>C MANE Select	ENSP00000252288.1:n.-32G>C
ENST00000447102.8:c.-32G>C	ENSP00000403536.2:n.-32G>C
ENST00000252288.6:c.-32G>C	ENSP00000252288.1:n.-32G>C
ENST00000447102.7:c.-32G>C	ENSP00000403536.2:n.-32G>C
NM_000156.5:c.-32G>C	NP_000147.1:n.-32G>C
NM_138924.2:c.-32G>C	NP_620279.1:n.-32G>C
NM_000156.6:c.-32G>C MANE Select	NP_000147.1:n.-32G>C
NM_138924.3:c.-32G>C	NP_620279.1:n.-32G>C

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