Canonical Allele Identifier: CA2839530728

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401225C>A , CM000681.2:g.1401225C>A	GRCh38
NC_000019.9:g.1401224C>A , CM000681.1:g.1401224C>A	GRCh37
NC_000019.8:g.1352224C>A	NCBI36
NG_009785.1:g.5329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.181+71G>T MANE Select	ENSP00000252288.1:n.181+71G>T
ENST00000447102.8:c.181+71G>T	ENSP00000403536.2:n.181+71G>T
ENST00000640762.1:c.112+140G>T	ENSP00000492031.1:n.112+140G>T
ENST00000252288.6:c.181+71G>T	ENSP00000252288.1:n.181+71G>T
ENST00000447102.7:c.181+71G>T	ENSP00000403536.2:n.181+71G>T
NM_000156.5:c.181+71G>T	NP_000147.1:n.181+71G>T
NM_138924.2:c.181+71G>T	NP_620279.1:n.181+71G>T
NM_000156.6:c.181+71G>T MANE Select	NP_000147.1:n.181+71G>T
NM_138924.3:c.181+71G>T	NP_620279.1:n.181+71G>T