Canonical Allele Identifier: CA259561
Gene: GALT HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.34649503G>A
GRCh37 chr9:g.34649500G>A
Revel Score:
ENST00000450095 0.917
ENST00000378842 (MANE Select) 0.917
gnomAD v2:
9:34649500 G / A
gnomAD v3:
9:34649503 G / A
gnomAD v4:
chr9-34649503-G-A
Joint Max Group AF 0.00002104 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002003 (EAS)
ClinVar Allele:
46843
ClinVar RCV:
RCV000022258
RCV001549598
RCV001831618
ClinVar Variation:
38288
dbSNP:
111033808
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649503G>A , CM000671.2:g.34649503G>A GRCh38
NC_000009.11:g.34649500G>A , CM000671.1:g.34649500G>A GRCh37
NC_000009.10:g.34639500G>A NCBI36
NG_009029.1:g.7866G>A
NG_028966.1:g.2319G>A
NG_009029.2:g.7915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*586G>A ENSP00000509954.1:n.*586G>A
ENST00000378842.8:c.998G>A MANE Select ENSP00000368119.4:p.Arg333Gln
ENST00000378842.7:c.998G>A ENSP00000368119.3:p.Arg333Gln
ENST00000450095.6:c.671G>A ENSP00000401956.2:p.Arg224Gln
ENST00000488412.2:n.582G>A
ENST00000489643.6:n.1406G>A
ENST00000554550.5:c.*618G>A ENSP00000451435.1:n.*618G>A
ENST00000554638.5:n.1470G>A
ENST00000555020.5:n.1787G>A
ENST00000555754.1:n.446G>A
ENST00000556278.1:c.432+1047G>A ENSP00000451792.1:n.432+1047G>A
ENST00000557706.5:n.1573G>A
NM_000155.3:c.998G>A NP_000146.2:p.Arg333Gln
NM_001258332.1:c.671G>A NP_001245261.1:p.Arg224Gln
NM_000155.4:c.998G>A MANE Select NP_000146.2:p.Arg333Gln
NM_001258332.2:c.671G>A NP_001245261.1:p.Arg224Gln
Search 100 bp 5'
Search 100 bp 3'