Canonical Allele Identifier: CA402993551

Gene: GAMT

Linked Data

• dbSNP Id: rs866093144
• gnomAD v3: 19-1398867-A-C
• gnomAD v4: 19-1398867-A-C
• MyVariant Identifiers: chr19:g.1398866A>C (hg19) ; chr19:g.1398867A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398867A>C , CM000681.2:g.1398867A>C	GRCh38
NC_000019.9:g.1398866A>C , CM000681.1:g.1398866A>C	GRCh37
NC_000019.8:g.1349866A>C	NCBI36
NG_009785.1:g.7687T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+49T>G MANE Select	ENSP00000252288.1:n.570+49T>G
ENST00000447102.8:c.619T>G	ENSP00000403536.2:p.Trp207Gly
ENST00000591788.3:c.253+49T>G
ENST00000640164.1:n.403+49T>G
ENST00000640762.1:c.501+49T>G	ENSP00000492031.1:n.501+49T>G
ENST00000252288.6:c.570+49T>G	ENSP00000252288.1:n.570+49T>G
ENST00000447102.7:c.619T>G	ENSP00000403536.2:p.Trp207Gly
ENST00000591788.2:c.255+49T>G	ENSP00000466341.2:n.255+49T>G
NM_000156.5:c.570+49T>G	NP_000147.1:n.570+49T>G
NM_138924.2:c.619T>G	NP_620279.1:p.Trp207Gly
NM_000156.6:c.570+49T>G MANE Select	NP_000147.1:n.570+49T>G
NM_138924.3:c.619T>G	NP_620279.1:p.Trp207Gly