Canonical Allele Identifier: CA343260179

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282107G>A , CM000663.2:g.160282107G>A	GRCh38
NC_000001.10:g.160251897G>A , CM000663.1:g.160251897G>A	GRCh37
NC_000001.9:g.158518521G>A	NCBI36
NG_008637.1:g.8045C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.526C>T MANE Select	NP_002848.1:p.Gln176Ter
ENST00000368072.10:c.526C>T MANE Select	ENSP00000357051.5:p.Gln176Ter
NM_001193644.1:c.526C>T	NP_001180573.1:p.Gln176Ter
NM_002857.3:c.526C>T	NP_002848.1:p.Gln176Ter
NR_036492.1:n.443C>T
NR_036492.2:n.425C>T
NR_036493.1:n.467C>T
NR_036493.2:n.449C>T
ENST00000368072.9:c.526C>T	ENSP00000357051.5:p.Gln176Ter
ENST00000392220.2:c.466C>T	ENSP00000376054.2:p.Gln156Ter
ENST00000462644.5:c.380C>T	ENSP00000435896.1:p.Ala127Val
ENST00000472750.5:c.*293C>T	ENSP00000434633.1:n.*293C>T
ENST00000485079.1:c.136C>T	ENSP00000450870.1:p.Gln46Ter
ENST00000495624.1:c.38C>T
ENST00000532508.5:n.498C>T
ENST00000532516.1:n.413C>T
ENST00000532643.5:c.440C>T	ENSP00000435915.1:p.Ala147Val
ENST00000533104.1:n.543C>T
ENST00000533699.5:n.520C>T
ENST00000556710.5:c.85C>T	ENSP00000451235.1:p.Gln29Ter
ENST00000556710.6:c.*207C>T	ENSP00000451235.2:n.*207C>T