Canonical Allele Identifier: CA583746
Community Standard Title: NM_004565.3(PEX14):c.170-13C>T
Gene: PEX14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10599225C>T , CM000663.2:g.10599225C>T GRCh38
NC_000001.10:g.10659282C>T , CM000663.1:g.10659282C>T GRCh37
NC_000001.9:g.10581869C>T NCBI36
NG_008340.1:g.129280C>T
NG_008340.2:g.129280C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004565.3:c.170-13C>T MANE Select NP_004556.1:n.170-13C>T
ENST00000356607.9:c.170-13C>T MANE Select ENSP00000349016.4:n.170-13C>T
NM_004565.2:c.170-13C>T NP_004556.1:n.170-13C>T
ENST00000356607.8:c.170-13C>T ENSP00000349016.4:n.170-13C>T
ENST00000491661.2:c.155-13C>T ENSP00000465473.1:n.155-13C>T
XM_005263470.3:c.-23-13C>T XP_005263527.1:n.-23-13C>T
XM_005263470.5:c.-23-13C>T XP_005263527.1:n.-23-13C>T
XM_011541577.1:c.212-13C>T XP_011539879.1:n.212-13C>T
XM_011541577.2:c.212-13C>T XP_011539879.1:n.212-13C>T
XM_011541578.1:c.113-13C>T XP_011539880.1:n.113-13C>T
XM_011541578.2:c.113-13C>T XP_011539880.1:n.113-13C>T
XM_011541579.1:c.212-19107C>T XP_011539881.1:n.212-19107C>T
XM_011541579.3:c.212-19107C>T XP_011539881.1:n.212-19107C>T
XM_011541580.1:c.170-19107C>T XP_011539882.1:n.170-19107C>T
XM_024447651.1:c.-23-13C>T XP_024303419.1:n.-23-13C>T