Canonical Allele Identifier: CA17283395
Gene: PARK7 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.7961913G>C
GRCh37 chr1:g.8021973G>C
gnomAD v3:
1:7961913 G / C
gnomAD v4:
chr1-7961913-G-C
Joint Max Group AF 0.00000487 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
35675666
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.-24+120G>C MANE Select ENSP00000340278.5:n.-24+120G>C
ENST00000338639.9:c.-24+120G>C ENSP00000340278.5:n.-24+120G>C
ENST00000377491.5:c.-192G>C ENSP00000366711.1:n.-192G>C
ENST00000377493.9:c.-24+178G>C ENSP00000466242.1:n.-24+178G>C
ENST00000460192.5:n.73+178G>C
ENST00000465354.5:n.46+120G>C
ENST00000493373.5:c.-23-850G>C ENSP00000465404.1:n.-23-850G>C
ENST00000493678.5:c.-24+178G>C ENSP00000418770.1:n.-24+178G>C
NM_001123377.1:c.-24+178G>C NP_001116849.1:n.-24+178G>C
NM_007262.4:c.-24+120G>C NP_009193.2:n.-24+120G>C
NM_007262.5:c.-24+120G>C MANE Select NP_009193.2:n.-24+120G>C
NM_001123377.2:c.-24+178G>C NP_001116849.1:n.-24+178G>C
Search 100 bp 5'
Search 100 bp 3'