Canonical Allele Identifier: CA2838186085

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10521601G>T , CM000663.2:g.10521601G>T	GRCh38
NC_000001.10:g.10581658G>T , CM000663.1:g.10581658G>T	GRCh37
NC_000001.9:g.10504245G>T	NCBI36
NG_008340.1:g.51656G>T
NG_008340.2:g.51656G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.85-14612G>T MANE Select	NP_004556.1:n.85-14612G>T
ENST00000356607.9:c.85-14612G>T MANE Select	ENSP00000349016.4:n.85-14612G>T
NM_004565.2:c.85-14612G>T	NP_004556.1:n.85-14612G>T
ENST00000356607.8:c.85-14612G>T	ENSP00000349016.4:n.85-14612G>T
ENST00000472851.1:n.445+4470G>T
ENST00000491661.2:c.70-14612G>T	ENSP00000465473.1:n.70-14612G>T
XM_005263470.5:c.-2995G>T	XP_005263527.1:n.-2995G>T
XM_011541577.1:c.127-14612G>T	XP_011539879.1:n.127-14612G>T
XM_011541577.2:c.127-14612G>T	XP_011539879.1:n.127-14612G>T
XM_011541578.1:c.-58G>T	XP_011539880.1:n.-58G>T
XM_011541578.2:c.-58G>T	XP_011539880.1:n.-58G>T
XM_011541579.1:c.127-14612G>T	XP_011539881.1:n.127-14612G>T
XM_011541579.3:c.127-14612G>T	XP_011539881.1:n.127-14612G>T
XM_011541580.1:c.85-14612G>T	XP_011539882.1:n.85-14612G>T
XM_024447651.1:c.-108-14612G>T	XP_024303419.1:n.-108-14612G>T