Canonical Allele Identifier: CA583795
Community Standard Title: NM_004565.3(PEX14):c.303C>T (p.Pro101=)
Gene: PEX14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10618336C>T , CM000663.2:g.10618336C>T GRCh38
NC_000001.10:g.10678393C>T , CM000663.1:g.10678393C>T GRCh37
NC_000001.9:g.10600980C>T NCBI36
NG_008340.1:g.148391C>T
NG_008340.2:g.148391C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004565.3:c.303C>T MANE Select NP_004556.1:p.Pro101=
ENST00000356607.9:c.303C>T MANE Select ENSP00000349016.4:p.Pro101=
NM_004565.2:c.303C>T NP_004556.1:p.Pro101=
ENST00000356607.8:c.303C>T ENSP00000349016.4:p.Pro101=
ENST00000491661.2:c.288C>T ENSP00000465473.1:p.Pro96=
XM_005263470.3:c.111C>T XP_005263527.1:p.Pro37=
XM_005263470.5:c.111C>T XP_005263527.1:p.Pro37=
XM_011541577.1:c.345C>T XP_011539879.1:p.Pro115=
XM_011541577.2:c.345C>T XP_011539879.1:p.Pro115=
XM_011541578.1:c.246C>T XP_011539880.1:p.Pro82=
XM_011541578.2:c.246C>T XP_011539880.1:p.Pro82=
XM_011541579.1:c.216C>T XP_011539881.1:p.Pro72=
XM_011541579.3:c.216C>T XP_011539881.1:p.Pro72=
XM_011541580.1:c.174C>T XP_011539882.1:p.Pro58=
XM_024447651.1:c.111C>T XP_024303419.1:p.Pro37=