Canonical Allele Identifier: CA402993876

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1398902C>T (hg19) ; chr19:g.1398903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398903C>T , CM000681.2:g.1398903C>T	GRCh38
NC_000019.9:g.1398902C>T , CM000681.1:g.1398902C>T	GRCh37
NC_000019.8:g.1349902C>T	NCBI36
NG_009785.1:g.7651G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+13G>A MANE Select	ENSP00000252288.1:n.570+13G>A
ENST00000447102.8:c.583G>A	ENSP00000403536.2:p.Glu195Lys
ENST00000591788.3:c.253+13G>A
ENST00000640164.1:n.403+13G>A
ENST00000640762.1:c.501+13G>A	ENSP00000492031.1:n.501+13G>A
ENST00000252288.6:c.570+13G>A	ENSP00000252288.1:n.570+13G>A
ENST00000447102.7:c.583G>A	ENSP00000403536.2:p.Glu195Lys
ENST00000591788.2:c.255+13G>A	ENSP00000466341.2:n.255+13G>A
NM_000156.5:c.570+13G>A	NP_000147.1:n.570+13G>A
NM_138924.2:c.583G>A	NP_620279.1:p.Glu195Lys
NM_000156.6:c.570+13G>A MANE Select	NP_000147.1:n.570+13G>A
NM_138924.3:c.583G>A	NP_620279.1:p.Glu195Lys