Canonical Allele Identifier: CA2840515375

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399972T>G , CM000681.2:g.1399972T>G	GRCh38
NC_000019.9:g.1399971T>G , CM000681.1:g.1399971T>G	GRCh37
NC_000019.8:g.1350971T>G	NCBI36
NG_009785.1:g.6582A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.182-34A>C MANE Select	ENSP00000252288.1:n.182-34A>C
ENST00000447102.8:c.182-34A>C	ENSP00000403536.2:n.182-34A>C
ENST00000640762.1:c.113-34A>C	ENSP00000492031.1:n.113-34A>C
ENST00000252288.6:c.182-34A>C	ENSP00000252288.1:n.182-34A>C
ENST00000447102.7:c.182-34A>C	ENSP00000403536.2:n.182-34A>C
NM_000156.5:c.182-34A>C	NP_000147.1:n.182-34A>C
NM_138924.2:c.182-34A>C	NP_620279.1:n.182-34A>C
NM_000156.6:c.182-34A>C MANE Select	NP_000147.1:n.182-34A>C
NM_138924.3:c.182-34A>C	NP_620279.1:n.182-34A>C