Canonical Allele Identifier: CA2643056997

Gene: PARK7

Linked Data

• gnomAD v4: 1-7985276-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985276C>T , CM000663.2:g.7985276C>T	GRCh38
NC_000001.10:g.8045336C>T , CM000663.1:g.8045336C>T	GRCh37
NC_000001.9:g.7967923C>T	NCBI36
NG_008271.1:g.28623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*222C>T MANE Select	ENSP00000340278.5:n.*222C>T
ENST00000338639.9:c.*222C>T	ENSP00000340278.5:n.*222C>T
ENST00000377493.9:c.*222C>T	ENSP00000466242.1:n.*222C>T
ENST00000469225.1:c.705C>T	ENSP00000466756.1:n.705C>T
ENST00000493678.5:c.*222C>T	ENSP00000418770.1:n.*222C>T
NM_001123377.1:c.*222C>T	NP_001116849.1:n.*222C>T
NM_007262.4:c.*222C>T	NP_009193.2:n.*222C>T
XM_005263424.2:c.*222C>T	XP_005263481.1:n.*222C>T
XM_005263424.3:c.*222C>T	XP_005263481.1:n.*222C>T
NM_007262.5:c.*222C>T MANE Select	NP_009193.2:n.*222C>T
NM_001123377.2:c.*222C>T	NP_001116849.1:n.*222C>T