Canonical Allele Identifier: CA8770841
Gene: GALK1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75762751G>A
GRCh37 chr17:g.73758832G>A
Revel Score:
ENST00000225614 0.212
ENST00000437911 0.212
ENST00000375188 0.212
gnomAD v2:
17:73758832 G / A
gnomAD v3:
17:75762751 G / A
gnomAD v4:
chr17-75762751-G-A
Joint Max Group AF 0.00187902 (AMR)
Genomes Max Group AF 0.00180646 (AMR)
Exomes Max Group AF 0.00175761 (AMR)
ClinVar RCV:
RCV000374236
RCV003910242
ClinVar Variation:
325232
dbSNP:
149825190
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75762751G>A , CM000679.2:g.75762751G>A GRCh38
NC_000017.10:g.73758832G>A , CM000679.1:g.73758832G>A GRCh37
NC_000017.9:g.71270427G>A NCBI36
NG_008079.1:g.7449C>T
NG_008079.2:g.7449C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587707.2:c.778C>T ENSP00000468341.2:n.778C>T
ENST00000592997.6:c.656C>T ENSP00000464765.2:p.Ala219Val
ENST00000588479.6:c.746C>T MANE Select ENSP00000465930.1:p.Ala249Val
ENST00000225614.6:c.746C>T ENSP00000225614.1:p.Ala249Val
ENST00000587707.1:c.532C>T ENSP00000468341.1:n.532C>T
ENST00000588479.5:c.746C>T ENSP00000465930.1:p.Ala249Val
ENST00000592494.1:n.1065C>T
ENST00000592997.5:c.122C>T ENSP00000464765.1:p.Ala41Val
NM_000154.1:c.746C>T NP_000145.1:p.Ala249Val
NM_000154.2:c.746C>T MANE Select NP_000145.1:p.Ala249Val
NM_001381985.1:c.746C>T NP_001368914.1:p.Ala249Val
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