Canonical Allele Identifier: CA338167033
Gene: PARK7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984912A>C , CM000663.2:g.7984912A>C GRCh38
NC_000001.10:g.8044972A>C , CM000663.1:g.8044972A>C GRCh37
NC_000001.9:g.7967559A>C NCBI36
NG_008271.1:g.28259A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.428A>C MANE Select ENSP00000340278.5:p.Glu143Ala
ENST00000338639.9:c.428A>C ENSP00000340278.5:p.Glu143Ala
ENST00000377488.5:c.428A>C ENSP00000366708.1:p.Glu143Ala
ENST00000377491.5:c.428A>C ENSP00000366711.1:p.Glu143Ala
ENST00000377493.9:c.368A>C ENSP00000466242.1:p.Glu123Ala
ENST00000469225.1:c.341A>C ENSP00000466756.1:p.Glu114Ala
ENST00000493373.5:c.428A>C ENSP00000465404.1:p.Glu143Ala
ENST00000493678.5:c.428A>C ENSP00000418770.1:p.Glu143Ala
NM_001123377.1:c.428A>C NP_001116849.1:p.Glu143Ala
NM_007262.4:c.428A>C NP_009193.2:p.Glu143Ala
XM_005263424.2:c.428A>C XP_005263481.1:p.Glu143Ala
XM_005263424.3:c.428A>C XP_005263481.1:p.Glu143Ala
NM_007262.5:c.428A>C MANE Select NP_009193.2:p.Glu143Ala
NM_001123377.2:c.428A>C NP_001116849.1:p.Glu143Ala