Canonical Allele Identifier: CA421361901

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282186C>G , CM000663.2:g.160282186C>G	GRCh38
NC_000001.10:g.160251976C>G , CM000663.1:g.160251976C>G	GRCh37
NC_000001.9:g.158518600C>G	NCBI36
NG_008637.1:g.7966G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.447G>C MANE Select	NP_002848.1:p.Ser149=
ENST00000368072.10:c.447G>C MANE Select	ENSP00000357051.5:p.Ser149=
NM_001193644.1:c.447G>C	NP_001180573.1:p.Ser149=
NM_002857.3:c.447G>C	NP_002848.1:p.Ser149=
NR_036492.1:n.364G>C
NR_036492.2:n.346G>C
NR_036493.1:n.388G>C
NR_036493.2:n.370G>C
ENST00000368072.9:c.447G>C	ENSP00000357051.5:p.Ser149=
ENST00000392220.2:c.387G>C	ENSP00000376054.2:p.Ser129=
ENST00000462644.5:c.301G>C	ENSP00000435896.1:p.Gly101Arg
ENST00000472750.5:c.*214G>C	ENSP00000434633.1:n.*214G>C
ENST00000485079.1:c.57G>C	ENSP00000450870.1:p.Ser19=
ENST00000532508.5:n.419G>C
ENST00000532516.1:n.334G>C
ENST00000532643.5:c.361G>C	ENSP00000435915.1:p.Gly121Arg
ENST00000533104.1:n.464G>C
ENST00000533699.5:n.441G>C
ENST00000556710.5:c.6G>C	ENSP00000451235.1:p.Ser2=
ENST00000556710.6:c.*128G>C	ENSP00000451235.2:n.*128G>C