Canonical Allele Identifier: CA8770720
Gene: GALK1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75758167G>A
GRCh37 chr17:g.73754248G>A
gnomAD v2:
17:73754248 G / A
gnomAD v3:
17:75758167 G / A
gnomAD v4:
chr17-75758167-G-A
Joint Max Group AF 0.22365961 (AFR)
Genomes Max Group AF 0.21892374 (AFR)
Exomes Max Group AF 0.22690774 (AFR)
ClinVar RCV:
RCV001537761
RCV001673147
ClinVar Variation:
1180482
dbSNP:
743554
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75758167G>A , CM000679.2:g.75758167G>A GRCh38
NC_000017.10:g.73754248G>A , CM000679.1:g.73754248G>A GRCh37
NC_000017.9:g.71265843G>A NCBI36
NG_007372.1:g.41733G>A
NG_008079.1:g.12033C>T
NG_008079.2:g.12033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592997.6:c.1018-40C>T ENSP00000464765.2:n.1018-40C>T
ENST00000588479.6:c.1108-40C>T MANE Select ENSP00000465930.1:n.1108-40C>T
ENST00000225614.6:c.1108-40C>T ENSP00000225614.1:n.1108-40C>T
ENST00000586733.1:n.310-40C>T
ENST00000588479.5:c.1108-40C>T ENSP00000465930.1:n.1108-40C>T
ENST00000589643.1:n.161-40C>T
ENST00000592997.5:c.484-40C>T ENSP00000464765.1:n.484-40C>T
NM_000154.1:c.1108-40C>T NP_000145.1:n.1108-40C>T
NM_000154.2:c.1108-40C>T MANE Select NP_000145.1:n.1108-40C>T
NM_001381985.1:c.1108-40C>T NP_001368914.1:n.1108-40C>T
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