Canonical Allele Identifier: CA583685

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10495285T>C , CM000663.2:g.10495285T>C	GRCh38
NC_000001.10:g.10555342T>C , CM000663.1:g.10555342T>C	GRCh37
NC_000001.9:g.10477929T>C	NCBI36
NG_008340.1:g.25340T>C
NG_008340.2:g.25340T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.48T>C MANE Select	NP_004556.1:p.Thr16=
ENST00000356607.9:c.48T>C MANE Select	ENSP00000349016.4:p.Thr16=
NM_004565.2:c.48T>C	NP_004556.1:p.Thr16=
ENST00000356607.8:c.48T>C	ENSP00000349016.4:p.Thr16=
ENST00000472851.1:n.305T>C
ENST00000491661.2:c.33T>C	ENSP00000465473.1:p.Thr11=
XM_011541577.1:c.90T>C	XP_011539879.1:p.Thr30=
XM_011541577.2:c.90T>C	XP_011539879.1:p.Thr30=
XM_011541579.1:c.90T>C	XP_011539881.1:p.Thr30=
XM_011541579.3:c.90T>C	XP_011539881.1:p.Thr30=
XM_011541580.1:c.48T>C	XP_011539882.1:p.Thr16=
XM_024447651.1:c.-145T>C	XP_024303419.1:n.-145T>C