Canonical Allele Identifier: CA2813256151

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401545G>C , CM000681.2:g.1401545G>C	GRCh38
NC_000019.9:g.1401544G>C , CM000681.1:g.1401544G>C	GRCh37
NC_000019.8:g.1352544G>C	NCBI36
NG_009785.1:g.5009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447102.8:c.-69C>G	ENSP00000403536.2:n.-69C>G
ENST00000447102.7:c.-69C>G	ENSP00000403536.2:n.-69C>G
NM_000156.5:c.-69C>G	NP_000147.1:n.-69C>G
NM_138924.2:c.-69C>G	NP_620279.1:n.-69C>G