Canonical Allele Identifier: CA5036306

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34650437A>T , CM000671.2:g.34650437A>T	GRCh38
NC_000009.11:g.34650434A>T , CM000671.1:g.34650434A>T	GRCh37
NC_000009.10:g.34640434A>T	NCBI36
NG_009029.1:g.8800A>T
NG_028966.1:g.3253A>T
NG_009029.2:g.8849A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.1128A>T MANE Select	NP_000146.2:p.Ala376=
ENST00000378842.8:c.1128A>T MANE Select	ENSP00000368119.4:p.Ala376=
NM_000155.3:c.1128A>T	NP_000146.2:p.Ala376=
NM_001258332.1:c.801A>T	NP_001245261.1:p.Ala267=
NM_001258332.2:c.801A>T	NP_001245261.1:p.Ala267=
ENST00000378842.7:c.1128A>T	ENSP00000368119.3:p.Ala376=
ENST00000450095.6:c.801A>T	ENSP00000401956.2:p.Ala267=
ENST00000488412.2:n.712A>T
ENST00000554550.5:c.*748A>T	ENSP00000451435.1:n.*748A>T
ENST00000554638.5:n.1600A>T
ENST00000555754.1:n.576A>T
ENST00000556278.1:c.432+1981A>T	ENSP00000451792.1:n.432+1981A>T
ENST00000557706.5:n.1703A>T
ENST00000691183.1:c.*716A>T	ENSP00000509954.1:n.*716A>T