Canonical Allele Identifier: CA15072929
Gene: PARK7 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.7961913G>T
GRCh37 chr1:g.8021973G>T
gnomAD v2:
1:8021973 G / T
gnomAD v3:
1:7961913 G / T
gnomAD v4:
chr1-7961913-G-T
Joint Max Group AF 0.24626397 (AFR)
Genomes Max Group AF 0.24626362 (AFR)
Exomes Max Group AF 0.08735582 (NFE)
ClinVar RCV:
RCV001645611
ClinVar Variation:
1243450
dbSNP:
35675666
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7961913G>T , CM000663.2:g.7961913G>T GRCh38
NC_000001.10:g.8021973G>T , CM000663.1:g.8021973G>T GRCh37
NC_000001.9:g.7944560G>T NCBI36
NG_008271.1:g.5260G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.-24+120G>T MANE Select ENSP00000340278.5:n.-24+120G>T
ENST00000338639.9:c.-24+120G>T ENSP00000340278.5:n.-24+120G>T
ENST00000377491.5:c.-192G>T ENSP00000366711.1:n.-192G>T
ENST00000377493.9:c.-24+178G>T ENSP00000466242.1:n.-24+178G>T
ENST00000460192.5:n.73+178G>T
ENST00000465354.5:n.46+120G>T
ENST00000493373.5:c.-23-850G>T ENSP00000465404.1:n.-23-850G>T
ENST00000493678.5:c.-24+178G>T ENSP00000418770.1:n.-24+178G>T
NM_001123377.1:c.-24+178G>T NP_001116849.1:n.-24+178G>T
NM_007262.4:c.-24+120G>T NP_009193.2:n.-24+120G>T
NM_007262.5:c.-24+120G>T MANE Select NP_009193.2:n.-24+120G>T
NM_001123377.2:c.-24+178G>T NP_001116849.1:n.-24+178G>T
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