Canonical Allele Identifier: CA373283787

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648820C>A (hg19) ; chr9:g.34648823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648823C>A , CM000671.2:g.34648823C>A	GRCh38
NC_000009.11:g.34648820C>A , CM000671.1:g.34648820C>A	GRCh37
NC_000009.10:g.34638820C>A	NCBI36
NG_009029.1:g.7186C>A
NG_028966.1:g.1639C>A
NG_009029.2:g.7235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*337C>A	ENSP00000509954.1:n.*337C>A
ENST00000378842.8:c.749C>A MANE Select	ENSP00000368119.4:p.Pro250His
ENST00000378842.7:c.749C>A	ENSP00000368119.3:p.Pro250His
ENST00000450095.6:c.422C>A	ENSP00000401956.2:p.Pro141His
ENST00000473506.6:c.*337C>A	ENSP00000432839.2:n.*337C>A
ENST00000473529.5:n.908C>A
ENST00000487381.5:n.1439C>A
ENST00000489643.6:n.829C>A
ENST00000554085.5:c.*493C>A	ENSP00000450419.1:n.*493C>A
ENST00000554550.5:c.*369C>A	ENSP00000451435.1:n.*369C>A
ENST00000554638.5:n.1221C>A
ENST00000555020.5:n.1210C>A
ENST00000555086.5:n.753C>A
ENST00000555754.1:n.94C>A
ENST00000556244.1:c.736C>A
ENST00000556278.1:c.432+367C>A	ENSP00000451792.1:n.432+367C>A
ENST00000557706.5:n.1311C>A
NM_000155.3:c.749C>A	NP_000146.2:p.Pro250His
NM_001258332.1:c.422C>A	NP_001245261.1:p.Pro141His
NM_000155.4:c.749C>A MANE Select	NP_000146.2:p.Pro250His
NM_001258332.2:c.422C>A	NP_001245261.1:p.Pro141His