Canonical Allele Identifier: CA373283450

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648783C>A (hg19) ; chr9:g.34648786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648786C>A , CM000671.2:g.34648786C>A	GRCh38
NC_000009.11:g.34648783C>A , CM000671.1:g.34648783C>A	GRCh37
NC_000009.10:g.34638783C>A	NCBI36
NG_009029.1:g.7149C>A
NG_028966.1:g.1602C>A
NG_009029.2:g.7198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*300C>A	ENSP00000509954.1:n.*300C>A
ENST00000378842.8:c.712C>A MANE Select	ENSP00000368119.4:p.His238Asn
ENST00000378842.7:c.712C>A	ENSP00000368119.3:p.His238Asn
ENST00000450095.6:c.385C>A	ENSP00000401956.2:p.His129Asn
ENST00000473506.6:c.*300C>A	ENSP00000432839.2:n.*300C>A
ENST00000473529.5:n.871C>A
ENST00000487381.5:n.1402C>A
ENST00000489643.6:n.792C>A
ENST00000554085.5:c.*456C>A	ENSP00000450419.1:n.*456C>A
ENST00000554550.5:c.*332C>A	ENSP00000451435.1:n.*332C>A
ENST00000554638.5:n.1184C>A
ENST00000555020.5:n.1173C>A
ENST00000555086.5:n.716C>A
ENST00000555754.1:n.57C>A
ENST00000556244.1:c.699C>A
ENST00000556278.1:c.432+330C>A	ENSP00000451792.1:n.432+330C>A
ENST00000557706.5:n.1274C>A
NM_000155.3:c.712C>A	NP_000146.2:p.His238Asn
NM_001258332.1:c.385C>A	NP_001245261.1:p.His129Asn
NM_000155.4:c.712C>A MANE Select	NP_000146.2:p.His238Asn
NM_001258332.2:c.385C>A	NP_001245261.1:p.His129Asn