Canonical Allele Identifier: CA373281905

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648349C>A (hg19) ; chr9:g.34648352C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648352C>A , CM000671.2:g.34648352C>A	GRCh38
NC_000009.11:g.34648349C>A , CM000671.1:g.34648349C>A	GRCh37
NC_000009.10:g.34638349C>A	NCBI36
NG_009029.1:g.6715C>A
NG_028966.1:g.1168C>A
NG_009029.2:g.6764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*171C>A	ENSP00000509954.1:n.*171C>A
ENST00000378842.8:c.583C>A MANE Select	ENSP00000368119.4:p.Leu195Met
ENST00000378842.7:c.583C>A	ENSP00000368119.3:p.Leu195Met
ENST00000450095.6:c.256C>A	ENSP00000401956.2:p.Leu86Met
ENST00000472111.5:n.839C>A
ENST00000473506.6:c.*171C>A	ENSP00000432839.2:n.*171C>A
ENST00000473529.5:n.742C>A
ENST00000485531.1:n.1177C>A
ENST00000487381.5:n.968C>A
ENST00000489643.6:n.358C>A
ENST00000554085.5:c.*327C>A	ENSP00000450419.1:n.*327C>A
ENST00000554139.5:n.829C>A
ENST00000554550.5:c.*203C>A	ENSP00000451435.1:n.*203C>A
ENST00000554638.5:n.1055C>A
ENST00000554897.5:c.*270C>A	ENSP00000450942.1:n.*270C>A
ENST00000554944.5:n.932C>A
ENST00000555020.5:n.739C>A
ENST00000555086.5:n.587C>A
ENST00000555214.5:n.404C>A
ENST00000556244.1:c.570C>A
ENST00000556278.1:c.328C>A	ENSP00000451792.1:p.Leu110Met
ENST00000556494.5:n.704C>A
ENST00000557706.5:n.1145C>A
NM_000155.3:c.583C>A	NP_000146.2:p.Leu195Met
NM_001258332.1:c.256C>A	NP_001245261.1:p.Leu86Met
NM_000155.4:c.583C>A MANE Select	NP_000146.2:p.Leu195Met
NM_001258332.2:c.256C>A	NP_001245261.1:p.Leu86Met