Canonical Allele Identifier: CA373281991

Gene: GALT

Linked Data

• ClinVar Variation Id: 1519425
• ClinVar RCV Id: RCV002024605
• dbSNP Id: rs2132344159
• MyVariant Identifiers: chr9:g.34648370G>A (hg19) ; chr9:g.34648373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648373G>A , CM000671.2:g.34648373G>A	GRCh38
NC_000009.11:g.34648370G>A , CM000671.1:g.34648370G>A	GRCh37
NC_000009.10:g.34638370G>A	NCBI36
NG_009029.1:g.6736G>A
NG_028966.1:g.1189G>A
NG_009029.2:g.6785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*192G>A	ENSP00000509954.1:n.*192G>A
ENST00000378842.8:c.604G>A MANE Select	ENSP00000368119.4:p.Glu202Lys
ENST00000378842.7:c.604G>A	ENSP00000368119.3:p.Glu202Lys
ENST00000450095.6:c.277G>A	ENSP00000401956.2:p.Glu93Lys
ENST00000472111.5:n.860G>A
ENST00000473506.6:c.*192G>A	ENSP00000432839.2:n.*192G>A
ENST00000473529.5:n.763G>A
ENST00000485531.1:n.1198G>A
ENST00000487381.5:n.989G>A
ENST00000489643.6:n.379G>A
ENST00000554085.5:c.*348G>A	ENSP00000450419.1:n.*348G>A
ENST00000554139.5:n.850G>A
ENST00000554550.5:c.*224G>A	ENSP00000451435.1:n.*224G>A
ENST00000554638.5:n.1076G>A
ENST00000554897.5:c.*291G>A	ENSP00000450942.1:n.*291G>A
ENST00000554944.5:n.953G>A
ENST00000555020.5:n.760G>A
ENST00000555086.5:n.608G>A
ENST00000555214.5:n.425G>A
ENST00000556244.1:c.591G>A
ENST00000556278.1:c.349G>A	ENSP00000451792.1:p.Glu117Lys
ENST00000556494.5:n.725G>A
ENST00000557706.5:n.1166G>A
NM_000155.3:c.604G>A	NP_000146.2:p.Glu202Lys
NM_001258332.1:c.277G>A	NP_001245261.1:p.Glu93Lys
NM_000155.4:c.604G>A MANE Select	NP_000146.2:p.Glu202Lys
NM_001258332.2:c.277G>A	NP_001245261.1:p.Glu93Lys