Canonical Allele Identifier: CA2643056976

Gene: PARK7

Linked Data

• gnomAD v4: 1-7985248-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985248T>C , CM000663.2:g.7985248T>C	GRCh38
NC_000001.10:g.8045308T>C , CM000663.1:g.8045308T>C	GRCh37
NC_000001.9:g.7967895T>C	NCBI36
NG_008271.1:g.28595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*194T>C MANE Select	ENSP00000340278.5:n.*194T>C
ENST00000338639.9:c.*194T>C	ENSP00000340278.5:n.*194T>C
ENST00000377491.5:c.*194T>C	ENSP00000366711.1:n.*194T>C
ENST00000377493.9:c.*194T>C	ENSP00000466242.1:n.*194T>C
ENST00000469225.1:c.677T>C	ENSP00000466756.1:n.677T>C
ENST00000493678.5:c.*194T>C	ENSP00000418770.1:n.*194T>C
NM_001123377.1:c.*194T>C	NP_001116849.1:n.*194T>C
NM_007262.4:c.*194T>C	NP_009193.2:n.*194T>C
XM_005263424.2:c.*194T>C	XP_005263481.1:n.*194T>C
XM_005263424.3:c.*194T>C	XP_005263481.1:n.*194T>C
NM_007262.5:c.*194T>C MANE Select	NP_009193.2:n.*194T>C
NM_001123377.2:c.*194T>C	NP_001116849.1:n.*194T>C