Canonical Allele Identifier: CA2643056988
Gene: PARK7 HGNC NCBI

Linked Data

gnomAD v4: 1-7985266-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985266G>T , CM000663.2:g.7985266G>T GRCh38
NC_000001.10:g.8045326G>T , CM000663.1:g.8045326G>T GRCh37
NC_000001.9:g.7967913G>T NCBI36
NG_008271.1:g.28613G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*212G>T MANE Select ENSP00000340278.5:n.*212G>T
ENST00000338639.9:c.*212G>T ENSP00000340278.5:n.*212G>T
ENST00000377493.9:c.*212G>T ENSP00000466242.1:n.*212G>T
ENST00000469225.1:c.695G>T ENSP00000466756.1:n.695G>T
ENST00000493678.5:c.*212G>T ENSP00000418770.1:n.*212G>T
NM_001123377.1:c.*212G>T NP_001116849.1:n.*212G>T
NM_007262.4:c.*212G>T NP_009193.2:n.*212G>T
XM_005263424.2:c.*212G>T XP_005263481.1:n.*212G>T
XM_005263424.3:c.*212G>T XP_005263481.1:n.*212G>T
NM_007262.5:c.*212G>T MANE Select NP_009193.2:n.*212G>T
NM_001123377.2:c.*212G>T NP_001116849.1:n.*212G>T