Canonical Allele Identifier: CA9043606

Gene: GAMT

Linked Data

• ClinVar Variation Id: 3019782
• ClinVar RCV Id: RCV003874893
• dbSNP Id: rs200762652
• ExAC: 19:1398904 G / C
• gnomAD v2: 19-1398904-G-C
• gnomAD v3: 19-1398905-G-C
• gnomAD v4: 19-1398905-G-C
• MyVariant Identifiers: chr19:g.1398904G>C (hg19) ; chr19:g.1398905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398905G>C , CM000681.2:g.1398905G>C	GRCh38
NC_000019.9:g.1398904G>C , CM000681.1:g.1398904G>C	GRCh37
NC_000019.8:g.1349904G>C	NCBI36
NG_009785.1:g.7649C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+11C>G MANE Select	ENSP00000252288.1:n.570+11C>G
ENST00000447102.8:c.581C>G	ENSP00000403536.2:p.Pro194Arg
ENST00000591788.3:c.253+11C>G
ENST00000640164.1:n.403+11C>G
ENST00000640762.1:c.501+11C>G	ENSP00000492031.1:n.501+11C>G
ENST00000252288.6:c.570+11C>G	ENSP00000252288.1:n.570+11C>G
ENST00000447102.7:c.581C>G	ENSP00000403536.2:p.Pro194Arg
ENST00000591788.2:c.255+11C>G	ENSP00000466341.2:n.255+11C>G
NM_000156.5:c.570+11C>G	NP_000147.1:n.570+11C>G
NM_138924.2:c.581C>G	NP_620279.1:p.Pro194Arg
NM_000156.6:c.570+11C>G MANE Select	NP_000147.1:n.570+11C>G
NM_138924.3:c.581C>G	NP_620279.1:p.Pro194Arg