Canonical Allele Identifier: CA373280590

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647842T>A (hg19) ; chr9:g.34647845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647845T>A , CM000671.2:g.34647845T>A	GRCh38
NC_000009.11:g.34647842T>A , CM000671.1:g.34647842T>A	GRCh37
NC_000009.10:g.34637842T>A	NCBI36
NG_009029.1:g.6208T>A
NG_028966.1:g.661T>A
NG_009029.2:g.6257T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.342T>A	ENSP00000509954.1:p.Ala114=
ENST00000378842.8:c.391T>A MANE Select	ENSP00000368119.4:p.Phe131Ile
ENST00000378842.7:c.391T>A	ENSP00000368119.3:p.Phe131Ile
ENST00000450095.6:c.64T>A	ENSP00000401956.2:p.Phe22Ile
ENST00000465543.6:n.730T>A
ENST00000472111.5:n.647T>A
ENST00000473506.6:c.342T>A	ENSP00000432839.2:p.Ala114=
ENST00000473529.5:n.527T>A
ENST00000485531.1:n.832T>A
ENST00000487381.5:n.776T>A
ENST00000489643.6:n.283-270T>A
ENST00000554085.5:c.*135T>A	ENSP00000450419.1:n.*135T>A
ENST00000554139.5:n.570T>A
ENST00000554330.5:n.554T>A
ENST00000554550.5:c.*11T>A	ENSP00000451435.1:n.*11T>A
ENST00000554638.5:n.863T>A
ENST00000554897.5:c.*11T>A	ENSP00000450942.1:n.*11T>A
ENST00000554944.5:n.587T>A
ENST00000555020.5:n.547T>A
ENST00000555086.5:n.395T>A
ENST00000555214.5:n.262-203T>A
ENST00000556244.1:c.378T>A
ENST00000556278.1:c.253-270T>A	ENSP00000451792.1:n.253-270T>A
ENST00000556494.5:n.512T>A
ENST00000557541.5:n.535T>A
ENST00000557706.5:n.953T>A
NM_000155.3:c.391T>A	NP_000146.2:p.Phe131Ile
NM_001258332.1:c.64T>A	NP_001245261.1:p.Phe22Ile
NM_000155.4:c.391T>A MANE Select	NP_000146.2:p.Phe131Ile
NM_001258332.2:c.64T>A	NP_001245261.1:p.Phe22Ile