Canonical Allele Identifier: CA373280055

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647547C>A (hg19) ; chr9:g.34647550C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647550C>A , CM000671.2:g.34647550C>A	GRCh38
NC_000009.11:g.34647547C>A , CM000671.1:g.34647547C>A	GRCh37
NC_000009.10:g.34637547C>A	NCBI36
NG_009029.1:g.5913C>A
NG_028966.1:g.366C>A
NG_009029.2:g.5962C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.311C>A	ENSP00000509954.1:p.Pro104His
ENST00000378842.8:c.311C>A MANE Select	ENSP00000368119.4:p.Pro104His
ENST00000378842.7:c.311C>A	ENSP00000368119.3:p.Pro104His
ENST00000450095.6:c.51-282C>A	ENSP00000401956.2:n.51-282C>A
ENST00000465543.6:n.650C>A
ENST00000472111.5:n.352C>A
ENST00000473506.6:c.262C>A	ENSP00000432839.2:p.Leu88Met
ENST00000473529.5:n.358C>A
ENST00000485531.1:n.537C>A
ENST00000487381.5:n.570C>A
ENST00000489643.6:n.282+292C>A
ENST00000554085.5:c.*55C>A	ENSP00000450419.1:n.*55C>A
ENST00000554139.5:n.364C>A
ENST00000554330.5:n.259C>A
ENST00000554550.5:c.253-282C>A	ENSP00000451435.1:n.253-282C>A
ENST00000554638.5:n.568C>A
ENST00000554897.5:c.253-282C>A	ENSP00000450942.1:n.253-282C>A
ENST00000554944.5:n.292C>A
ENST00000555020.5:n.341C>A
ENST00000555086.5:n.315C>A
ENST00000555214.5:n.261+292C>A
ENST00000556157.1:n.435C>A
ENST00000556244.1:c.298C>A
ENST00000556278.1:c.252+292C>A	ENSP00000451792.1:n.252+292C>A
ENST00000556403.5:n.324C>A
ENST00000556494.5:n.343C>A
ENST00000557541.5:n.455C>A
ENST00000557706.5:n.658C>A
NM_000155.3:c.311C>A	NP_000146.2:p.Pro104His
NM_001258332.1:c.51-282C>A	NP_001245261.1:n.51-282C>A
NM_000155.4:c.311C>A MANE Select	NP_000146.2:p.Pro104His
NM_001258332.2:c.51-282C>A	NP_001245261.1:n.51-282C>A