Canonical Allele Identifier: CA9043666

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399168G>A , CM000681.2:g.1399168G>A	GRCh38
NC_000019.9:g.1399167G>A , CM000681.1:g.1399167G>A	GRCh37
NC_000019.8:g.1350167G>A	NCBI36
NG_009785.1:g.7386C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000156.6:c.419C>T MANE Select	NP_000147.1:p.Ser140Leu
ENST00000252288.8:c.419C>T MANE Select	ENSP00000252288.1:p.Ser140Leu
NM_000156.5:c.419C>T	NP_000147.1:p.Ser140Leu
NM_138924.2:c.419C>T	NP_620279.1:p.Ser140Leu
NM_138924.3:c.419C>T	NP_620279.1:p.Ser140Leu
ENST00000252288.6:c.419C>T	ENSP00000252288.1:p.Ser140Leu
ENST00000447102.7:c.419C>T	ENSP00000403536.2:p.Ser140Leu
ENST00000447102.8:c.419C>T	ENSP00000403536.2:p.Ser140Leu
ENST00000591788.2:c.104C>T	ENSP00000466341.2:p.Ser35Leu
ENST00000591788.3:c.102C>T
ENST00000640164.1:n.252C>T
ENST00000640762.1:c.350C>T	ENSP00000492031.1:p.Ser117Leu