Canonical Allele Identifier: CA338167094
Gene: PARK7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7984941C>T , CM000663.2:g.7984941C>T GRCh38
NC_000001.10:g.8045001C>T , CM000663.1:g.8045001C>T GRCh37
NC_000001.9:g.7967588C>T NCBI36
NG_008271.1:g.28288C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338639.10:c.457C>T MANE Select ENSP00000340278.5:p.Leu153Phe
ENST00000338639.9:c.457C>T ENSP00000340278.5:p.Leu153Phe
ENST00000377488.5:c.457C>T ENSP00000366708.1:p.Leu153Phe
ENST00000377491.5:c.457C>T ENSP00000366711.1:p.Leu153Phe
ENST00000377493.9:c.397C>T ENSP00000466242.1:p.Leu133Phe
ENST00000469225.1:c.370C>T ENSP00000466756.1:p.Leu124Phe
ENST00000493373.5:c.457C>T ENSP00000465404.1:p.Leu153Phe
ENST00000493678.5:c.457C>T ENSP00000418770.1:p.Leu153Phe
NM_001123377.1:c.457C>T NP_001116849.1:p.Leu153Phe
NM_007262.4:c.457C>T NP_009193.2:p.Leu153Phe
XM_005263424.2:c.457C>T XP_005263481.1:p.Leu153Phe
XM_005263424.3:c.457C>T XP_005263481.1:p.Leu153Phe
NM_007262.5:c.457C>T MANE Select NP_009193.2:p.Leu153Phe
NM_001123377.2:c.457C>T NP_001116849.1:p.Leu153Phe