Canonical Allele Identifier: CA2840515376

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399979G>C , CM000681.2:g.1399979G>C	GRCh38
NC_000019.9:g.1399978G>C , CM000681.1:g.1399978G>C	GRCh37
NC_000019.8:g.1350978G>C	NCBI36
NG_009785.1:g.6575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.182-41C>G MANE Select	ENSP00000252288.1:n.182-41C>G
ENST00000447102.8:c.182-41C>G	ENSP00000403536.2:n.182-41C>G
ENST00000640762.1:c.113-41C>G	ENSP00000492031.1:n.113-41C>G
ENST00000252288.6:c.182-41C>G	ENSP00000252288.1:n.182-41C>G
ENST00000447102.7:c.182-41C>G	ENSP00000403536.2:n.182-41C>G
NM_000156.5:c.182-41C>G	NP_000147.1:n.182-41C>G
NM_138924.2:c.182-41C>G	NP_620279.1:n.182-41C>G
NM_000156.6:c.182-41C>G MANE Select	NP_000147.1:n.182-41C>G
NM_138924.3:c.182-41C>G	NP_620279.1:n.182-41C>G