Canonical Allele Identifier: CA343265078

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160283616C>A , CM000663.2:g.160283616C>A	GRCh38
NC_000001.10:g.160253406C>A , CM000663.1:g.160253406C>A	GRCh37
NC_000001.9:g.158520030C>A	NCBI36
NG_008637.1:g.6536G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.94G>T MANE Select	NP_002848.1:p.Ala32Ser
ENST00000368072.10:c.94G>T MANE Select	ENSP00000357051.5:p.Ala32Ser
NM_001193644.1:c.94G>T	NP_001180573.1:p.Ala32Ser
NM_002857.3:c.94G>T	NP_002848.1:p.Ala32Ser
NR_036492.1:n.98-507G>T
NR_036492.2:n.80-507G>T
NR_036493.1:n.121G>T
NR_036493.2:n.103G>T
ENST00000368072.9:c.94G>T	ENSP00000357051.5:p.Ala32Ser
ENST00000392220.2:c.34G>T	ENSP00000376054.2:p.Ala12Ser
ENST00000462644.5:c.34G>T	ENSP00000435896.1:p.Ala12Ser
ENST00000472750.5:c.71-507G>T	ENSP00000434633.1:n.71-507G>T
ENST00000524939.1:n.111G>T
ENST00000532508.5:n.66G>T
ENST00000532643.5:c.94G>T	ENSP00000435915.1:p.Ala32Ser
ENST00000533104.1:n.80-507G>T
ENST00000533699.5:n.88G>T
ENST00000556710.5:c.-175-507G>T	ENSP00000451235.1:n.-175-507G>T
ENST00000556710.6:c.71-507G>T	ENSP00000451235.2:n.71-507G>T