Canonical Allele Identifier: CA373282188

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648409G>A (hg19) ; chr9:g.34648412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648412G>A , CM000671.2:g.34648412G>A	GRCh38
NC_000009.11:g.34648409G>A , CM000671.1:g.34648409G>A	GRCh37
NC_000009.10:g.34638409G>A	NCBI36
NG_009029.1:g.6775G>A
NG_028966.1:g.1228G>A
NG_009029.2:g.6824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*231G>A	ENSP00000509954.1:n.*231G>A
ENST00000378842.8:c.643G>A MANE Select	ENSP00000368119.4:p.Glu215Lys
ENST00000378842.7:c.643G>A	ENSP00000368119.3:p.Glu215Lys
ENST00000450095.6:c.316G>A	ENSP00000401956.2:p.Glu106Lys
ENST00000472111.5:n.899G>A
ENST00000473506.6:c.*231G>A	ENSP00000432839.2:n.*231G>A
ENST00000473529.5:n.802G>A
ENST00000487381.5:n.1028G>A
ENST00000489643.6:n.418G>A
ENST00000554085.5:c.*387G>A	ENSP00000450419.1:n.*387G>A
ENST00000554550.5:c.*263G>A	ENSP00000451435.1:n.*263G>A
ENST00000554638.5:n.1115G>A
ENST00000555020.5:n.799G>A
ENST00000555086.5:n.647G>A
ENST00000555214.5:n.464G>A
ENST00000556244.1:c.630G>A
ENST00000556278.1:c.388G>A	ENSP00000451792.1:p.Glu130Lys
ENST00000556494.5:n.764G>A
ENST00000557706.5:n.1205G>A
NM_000155.3:c.643G>A	NP_000146.2:p.Glu215Lys
NM_001258332.1:c.316G>A	NP_001245261.1:p.Glu106Lys
NM_000155.4:c.643G>A MANE Select	NP_000146.2:p.Glu215Lys
NM_001258332.2:c.316G>A	NP_001245261.1:p.Glu106Lys