Canonical Allele Identifier: CA373283418

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648779T>A (hg19) ; chr9:g.34648782T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648782T>A , CM000671.2:g.34648782T>A	GRCh38
NC_000009.11:g.34648779T>A , CM000671.1:g.34648779T>A	GRCh37
NC_000009.10:g.34638779T>A	NCBI36
NG_009029.1:g.7145T>A
NG_028966.1:g.1598T>A
NG_009029.2:g.7194T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*296T>A	ENSP00000509954.1:n.*296T>A
ENST00000378842.8:c.708T>A MANE Select	ENSP00000368119.4:p.Ser236Arg
ENST00000378842.7:c.708T>A	ENSP00000368119.3:p.Ser236Arg
ENST00000450095.6:c.381T>A	ENSP00000401956.2:p.Ser127Arg
ENST00000473506.6:c.*296T>A	ENSP00000432839.2:n.*296T>A
ENST00000473529.5:n.867T>A
ENST00000487381.5:n.1398T>A
ENST00000489643.6:n.788T>A
ENST00000554085.5:c.*452T>A	ENSP00000450419.1:n.*452T>A
ENST00000554550.5:c.*328T>A	ENSP00000451435.1:n.*328T>A
ENST00000554638.5:n.1180T>A
ENST00000555020.5:n.1169T>A
ENST00000555086.5:n.712T>A
ENST00000555754.1:n.53T>A
ENST00000556244.1:c.695T>A
ENST00000556278.1:c.432+326T>A	ENSP00000451792.1:n.432+326T>A
ENST00000557706.5:n.1270T>A
NM_000155.3:c.708T>A	NP_000146.2:p.Ser236Arg
NM_001258332.1:c.381T>A	NP_001245261.1:p.Ser127Arg
NM_000155.4:c.708T>A MANE Select	NP_000146.2:p.Ser236Arg
NM_001258332.2:c.381T>A	NP_001245261.1:p.Ser127Arg