Canonical Allele Identifier: CA504894991

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1398894G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398895G>T , CM000681.2:g.1398895G>T	GRCh38
NC_000019.9:g.1398894G>T , CM000681.1:g.1398894G>T	GRCh37
NC_000019.8:g.1349894G>T	NCBI36
NG_009785.1:g.7659C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+21C>A MANE Select	ENSP00000252288.1:n.570+21C>A
ENST00000447102.8:c.591C>A	ENSP00000403536.2:p.Pro197=
ENST00000591788.3:c.253+21C>A
ENST00000640164.1:n.403+21C>A
ENST00000640762.1:c.501+21C>A	ENSP00000492031.1:n.501+21C>A
ENST00000252288.6:c.570+21C>A	ENSP00000252288.1:n.570+21C>A
ENST00000447102.7:c.591C>A	ENSP00000403536.2:p.Pro197=
ENST00000591788.2:c.255+21C>A	ENSP00000466341.2:n.255+21C>A
NM_000156.5:c.570+21C>A	NP_000147.1:n.570+21C>A
NM_138924.2:c.591C>A	NP_620279.1:p.Pro197=
NM_000156.6:c.570+21C>A MANE Select	NP_000147.1:n.570+21C>A
NM_138924.3:c.591C>A	NP_620279.1:p.Pro197=