Canonical Allele Identifier: CA464402349

Gene: GALT

Linked Data

• ClinVar Variation Id: 2811028
• ClinVar RCV Id: RCV003610135
• MyVariant Identifiers: chr9:g.34648441G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648444G>A , CM000671.2:g.34648444G>A	GRCh38
NC_000009.11:g.34648441G>A , CM000671.1:g.34648441G>A	GRCh37
NC_000009.10:g.34638441G>A	NCBI36
NG_009029.1:g.6807G>A
NG_028966.1:g.1260G>A
NG_009029.2:g.6856G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*263G>A	ENSP00000509954.1:n.*263G>A
ENST00000378842.8:c.675G>A MANE Select	ENSP00000368119.4:p.Glu225=
ENST00000378842.7:c.675G>A	ENSP00000368119.3:p.Glu225=
ENST00000450095.6:c.348G>A	ENSP00000401956.2:p.Glu116=
ENST00000472111.5:n.931G>A
ENST00000473506.6:c.*263G>A	ENSP00000432839.2:n.*263G>A
ENST00000473529.5:n.834G>A
ENST00000487381.5:n.1060G>A
ENST00000489643.6:n.450G>A
ENST00000554085.5:c.*419G>A	ENSP00000450419.1:n.*419G>A
ENST00000554550.5:c.*295G>A	ENSP00000451435.1:n.*295G>A
ENST00000554638.5:n.1147G>A
ENST00000555020.5:n.831G>A
ENST00000555086.5:n.679G>A
ENST00000555214.5:n.496G>A
ENST00000555754.1:n.20G>A
ENST00000556244.1:c.662G>A
ENST00000556278.1:c.420G>A	ENSP00000451792.1:p.Glu140=
ENST00000556494.5:n.796G>A
ENST00000557706.5:n.1237G>A
NM_000155.3:c.675G>A	NP_000146.2:p.Glu225=
NM_001258332.1:c.348G>A	NP_001245261.1:p.Glu116=
NM_000155.4:c.675G>A MANE Select	NP_000146.2:p.Glu225=
NM_001258332.2:c.348G>A	NP_001245261.1:p.Glu116=