Canonical Allele Identifier: CA1673190

Gene: PEX13 PUS10

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61017791C>T , CM000664.2:g.61017791C>T	GRCh38
NC_000002.11:g.61244926C>T , CM000664.1:g.61244926C>T	GRCh37
NC_000002.10:g.61098430C>T	NCBI36
NG_008665.1:g.5115C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002618.4:c.32C>T (PEX13) MANE Select	NP_002609.1:p.Pro11Leu
NM_144709.4:c.-16+217G>A (PUS10) MANE Select	NP_653310.2:n.-16+217G>A
ENST00000295030.6:c.32C>T (PEX13) MANE Select	ENSP00000295030.4:p.Pro11Leu
ENST00000316752.11:c.-16+217G>A (PUS10) MANE Select	ENSP00000326003.6:n.-16+217G>A
NM_001322127.1:c.-623+217G>A (PUS10)	NP_001309056.1:n.-623+217G>A
NM_002618.3:c.32C>T (PEX13)	NP_002609.1:p.Pro11Leu
NM_144709.2:c.-16+217G>A (PUS10)	NP_653310.2:n.-16+217G>A
NM_144709.3:c.-16+217G>A (PUS10)	NP_653310.2:n.-16+217G>A
ENST00000295030.5:c.32C>T (PEX13)	ENSP00000295030.4:p.Pro11Leu
ENST00000316752.10:c.-16+217G>A (PUS10)	ENSP00000326003.6:n.-16+217G>A
ENST00000401576.1:c.32C>T (PEX13)	ENSP00000384738.1:p.Pro11Leu
ENST00000414712.2:c.32C>T (PEX13)	ENSP00000405413.2:p.Pro11Leu
ENST00000444100.2:c.32C>T (PEX13)	ENSP00000405184.2:p.Pro11Leu
ENST00000472678.1:n.72C>T (PEX13)
ENST00000602599.1:n.252+217G>A (PUS10)
XM_011532568.3:c.-63+217G>A (PUS10)	XP_011530870.1:n.-63+217G>A
XM_011532574.1:c.-16+348G>A (PUS10)	XP_011530876.1:n.-16+348G>A
XM_011532574.3:c.-16+348G>A (PUS10)	XP_011530876.1:n.-16+348G>A
XM_011532904.1:c.-109C>T (PEX13)	XP_011531206.1:n.-109C>T
XM_017003428.2:c.-16+217G>A (PUS10)	XP_016858917.1:n.-16+217G>A
XM_024452720.1:c.-140+217G>A (PUS10)	XP_024308488.1:n.-140+217G>A