Canonical Allele Identifier: CA5036208

Gene: GALT

Linked Data

• ClinVar Variation Id: 914056
• ClinVar RCV Id: RCV001168023 ; RCV001833727
• dbSNP Id: rs773766027
• ExAC: 9:34648844 G / A
• gnomAD v2: 9-34648844-G-A
• gnomAD v3: 9-34648847-G-A
• gnomAD v4: 9-34648847-G-A
• MyVariant Identifiers: chr9:g.34648844G>A (hg19) ; chr9:g.34648847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648847G>A , CM000671.2:g.34648847G>A	GRCh38
NC_000009.11:g.34648844G>A , CM000671.1:g.34648844G>A	GRCh37
NC_000009.10:g.34638844G>A	NCBI36
NG_009029.1:g.7209G>A
NG_028966.1:g.1663G>A
NG_009029.2:g.7259G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*361G>A	ENSP00000509954.1:n.*361G>A
ENST00000378842.8:c.773G>A MANE Select	ENSP00000368119.4:p.Arg258His
ENST00000378842.7:c.773G>A	ENSP00000368119.3:p.Arg258His
ENST00000450095.6:c.446G>A	ENSP00000401956.2:p.Arg149His
ENST00000473506.6:c.*361G>A	ENSP00000432839.2:n.*361G>A
ENST00000489643.6:n.853G>A
ENST00000554085.5:c.*517G>A	ENSP00000450419.1:n.*517G>A
ENST00000554550.5:c.*393G>A	ENSP00000451435.1:n.*393G>A
ENST00000554638.5:n.1245G>A
ENST00000555020.5:n.1234G>A
ENST00000555086.5:n.777G>A
ENST00000555754.1:n.118G>A
ENST00000556244.1:c.760G>A
ENST00000556278.1:c.432+391G>A	ENSP00000451792.1:n.432+391G>A
ENST00000557706.5:n.1335G>A
NM_000155.3:c.773G>A	NP_000146.2:p.Arg258His
NM_001258332.1:c.446G>A	NP_001245261.1:p.Arg149His
NM_000155.4:c.773G>A MANE Select	NP_000146.2:p.Arg258His
NM_001258332.2:c.446G>A	NP_001245261.1:p.Arg149His