Canonical Allele Identifier: CA373280594

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647843T>A (hg19) ; chr9:g.34647846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647846T>A , CM000671.2:g.34647846T>A	GRCh38
NC_000009.11:g.34647843T>A , CM000671.1:g.34647843T>A	GRCh37
NC_000009.10:g.34637843T>A	NCBI36
NG_009029.1:g.6209T>A
NG_028966.1:g.662T>A
NG_009029.2:g.6258T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.343T>A	ENSP00000509954.1:p.Ser115Thr
ENST00000378842.8:c.392T>A MANE Select	ENSP00000368119.4:p.Phe131Tyr
ENST00000378842.7:c.392T>A	ENSP00000368119.3:p.Phe131Tyr
ENST00000450095.6:c.65T>A	ENSP00000401956.2:p.Phe22Tyr
ENST00000465543.6:n.731T>A
ENST00000472111.5:n.648T>A
ENST00000473506.6:c.343T>A	ENSP00000432839.2:p.Ser115Thr
ENST00000473529.5:n.528T>A
ENST00000485531.1:n.833T>A
ENST00000487381.5:n.777T>A
ENST00000489643.6:n.283-269T>A
ENST00000554085.5:c.*136T>A	ENSP00000450419.1:n.*136T>A
ENST00000554139.5:n.571T>A
ENST00000554330.5:n.555T>A
ENST00000554550.5:c.*12T>A	ENSP00000451435.1:n.*12T>A
ENST00000554638.5:n.864T>A
ENST00000554897.5:c.*12T>A	ENSP00000450942.1:n.*12T>A
ENST00000554944.5:n.588T>A
ENST00000555020.5:n.548T>A
ENST00000555086.5:n.396T>A
ENST00000555214.5:n.262-202T>A
ENST00000556244.1:c.379T>A
ENST00000556278.1:c.253-269T>A	ENSP00000451792.1:n.253-269T>A
ENST00000556494.5:n.513T>A
ENST00000557541.5:n.536T>A
ENST00000557706.5:n.954T>A
NM_000155.3:c.392T>A	NP_000146.2:p.Phe131Tyr
NM_001258332.1:c.65T>A	NP_001245261.1:p.Phe22Tyr
NM_000155.4:c.392T>A MANE Select	NP_000146.2:p.Phe131Tyr
NM_001258332.2:c.65T>A	NP_001245261.1:p.Phe22Tyr