Canonical Allele Identifier: CA402995925

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399589T>C , CM000681.2:g.1399589T>C	GRCh38
NC_000019.9:g.1399588T>C , CM000681.1:g.1399588T>C	GRCh37
NC_000019.8:g.1350588T>C	NCBI36
NG_009785.1:g.6965A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000156.6:c.328-2A>G MANE Select	NP_000147.1:n.328-2A>G
ENST00000252288.8:c.328-2A>G MANE Select	ENSP00000252288.1:n.328-2A>G
NM_000156.5:c.328-2A>G	NP_000147.1:n.328-2A>G
NM_138924.2:c.328-2A>G	NP_620279.1:n.328-2A>G
NM_138924.3:c.328-2A>G	NP_620279.1:n.328-2A>G
ENST00000252288.6:c.328-2A>G	ENSP00000252288.1:n.328-2A>G
ENST00000447102.7:c.328-2A>G	ENSP00000403536.2:n.328-2A>G
ENST00000447102.8:c.328-2A>G	ENSP00000403536.2:n.328-2A>G
ENST00000591788.2:c.13-2A>G	ENSP00000466341.2:n.13-2A>G
ENST00000591788.3:c.11-2A>G
ENST00000640164.1:n.159A>G
ENST00000640762.1:c.259-2A>G	ENSP00000492031.1:n.259-2A>G