Canonical Allele Identifier: CA9043598

Gene: GAMT

Linked Data

• dbSNP Id: rs745860636
• ExAC: 19:1398868 C / T
• gnomAD v2: 19-1398868-C-T
• gnomAD v4: 19-1398869-C-T
• MyVariant Identifiers: chr19:g.1398868C>T (hg19) ; chr19:g.1398869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398869C>T , CM000681.2:g.1398869C>T	GRCh38
NC_000019.9:g.1398868C>T , CM000681.1:g.1398868C>T	GRCh37
NC_000019.8:g.1349868C>T	NCBI36
NG_009785.1:g.7685G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+47G>A MANE Select	ENSP00000252288.1:n.570+47G>A
ENST00000447102.8:c.617G>A	ENSP00000403536.2:p.Gly206Glu
ENST00000591788.3:c.253+47G>A
ENST00000640164.1:n.403+47G>A
ENST00000640762.1:c.501+47G>A	ENSP00000492031.1:n.501+47G>A
ENST00000252288.6:c.570+47G>A	ENSP00000252288.1:n.570+47G>A
ENST00000447102.7:c.617G>A	ENSP00000403536.2:p.Gly206Glu
ENST00000591788.2:c.255+47G>A	ENSP00000466341.2:n.255+47G>A
NM_000156.5:c.570+47G>A	NP_000147.1:n.570+47G>A
NM_138924.2:c.617G>A	NP_620279.1:p.Gly206Glu
NM_000156.6:c.570+47G>A MANE Select	NP_000147.1:n.570+47G>A
NM_138924.3:c.617G>A	NP_620279.1:p.Gly206Glu