Canonical Allele Identifier: CA373279193

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647519T>A (hg19) ; chr9:g.34647522T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647522T>A , CM000671.2:g.34647522T>A	GRCh38
NC_000009.11:g.34647519T>A , CM000671.1:g.34647519T>A	GRCh37
NC_000009.10:g.34637519T>A	NCBI36
NG_009029.1:g.5885T>A
NG_028966.1:g.338T>A
NG_009029.2:g.5934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.283T>A	ENSP00000509954.1:p.Phe95Ile
ENST00000378842.8:c.283T>A MANE Select	ENSP00000368119.4:p.Phe95Ile
ENST00000378842.7:c.283T>A	ENSP00000368119.3:p.Phe95Ile
ENST00000450095.6:c.50+264T>A	ENSP00000401956.2:n.50+264T>A
ENST00000465543.6:n.622T>A
ENST00000472111.5:n.324T>A
ENST00000473506.6:c.253-19T>A	ENSP00000432839.2:n.253-19T>A
ENST00000473529.5:n.330T>A
ENST00000485531.1:n.509T>A
ENST00000487381.5:n.542T>A
ENST00000489643.6:n.282+264T>A
ENST00000554085.5:c.*27T>A	ENSP00000450419.1:n.*27T>A
ENST00000554139.5:n.336T>A
ENST00000554330.5:n.250-19T>A
ENST00000554550.5:c.252+264T>A	ENSP00000451435.1:n.252+264T>A
ENST00000554638.5:n.540T>A
ENST00000554897.5:c.252+264T>A	ENSP00000450942.1:n.252+264T>A
ENST00000554944.5:n.283-19T>A
ENST00000555020.5:n.313T>A
ENST00000555086.5:n.287T>A
ENST00000555214.5:n.261+264T>A
ENST00000556157.1:n.407T>A
ENST00000556244.1:c.270T>A
ENST00000556278.1:c.252+264T>A	ENSP00000451792.1:n.252+264T>A
ENST00000556403.5:n.296T>A
ENST00000556494.5:n.315T>A
ENST00000557541.5:n.446-19T>A
ENST00000557706.5:n.630T>A
NM_000155.3:c.283T>A	NP_000146.2:p.Phe95Ile
NM_001258332.1:c.50+264T>A	NP_001245261.1:n.50+264T>A
NM_000155.4:c.283T>A MANE Select	NP_000146.2:p.Phe95Ile
NM_001258332.2:c.50+264T>A	NP_001245261.1:n.50+264T>A