Canonical Allele Identifier: CA338690561

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10599367G>C , CM000663.2:g.10599367G>C	GRCh38
NC_000001.10:g.10659424G>C , CM000663.1:g.10659424G>C	GRCh37
NC_000001.9:g.10582011G>C	NCBI36
NG_008340.1:g.129422G>C
NG_008340.2:g.129422G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.298+1G>C MANE Select	NP_004556.1:n.298+1G>C
ENST00000356607.9:c.298+1G>C MANE Select	ENSP00000349016.4:n.298+1G>C
NM_004565.2:c.298+1G>C	NP_004556.1:n.298+1G>C
ENST00000356607.8:c.298+1G>C	ENSP00000349016.4:n.298+1G>C
ENST00000491661.2:c.283+1G>C	ENSP00000465473.1:n.283+1G>C
XM_005263470.3:c.106+1G>C	XP_005263527.1:n.106+1G>C
XM_005263470.5:c.106+1G>C	XP_005263527.1:n.106+1G>C
XM_011541577.1:c.340+1G>C	XP_011539879.1:n.340+1G>C
XM_011541577.2:c.340+1G>C	XP_011539879.1:n.340+1G>C
XM_011541578.1:c.241+1G>C	XP_011539880.1:n.241+1G>C
XM_011541578.2:c.241+1G>C	XP_011539880.1:n.241+1G>C
XM_011541579.1:c.212-18965G>C	XP_011539881.1:n.212-18965G>C
XM_011541579.3:c.212-18965G>C	XP_011539881.1:n.212-18965G>C
XM_011541580.1:c.170-18965G>C	XP_011539882.1:n.170-18965G>C
XM_024447651.1:c.106+1G>C	XP_024303419.1:n.106+1G>C