Canonical Allele Identifier: CA1197469

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160283592A>C , CM000663.2:g.160283592A>C	GRCh38
NC_000001.10:g.160253382A>C , CM000663.1:g.160253382A>C	GRCh37
NC_000001.9:g.158520006A>C	NCBI36
NG_008637.1:g.6560T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.118T>G MANE Select	NP_002848.1:p.Ser40Ala
ENST00000368072.10:c.118T>G MANE Select	ENSP00000357051.5:p.Ser40Ala
NM_001193644.1:c.118T>G	NP_001180573.1:p.Ser40Ala
NM_002857.3:c.118T>G	NP_002848.1:p.Ser40Ala
NR_036492.1:n.98-483T>G
NR_036492.2:n.80-483T>G
NR_036493.1:n.145T>G
NR_036493.2:n.127T>G
ENST00000368072.9:c.118T>G	ENSP00000357051.5:p.Ser40Ala
ENST00000392220.2:c.58T>G	ENSP00000376054.2:p.Ser20Ala
ENST00000462644.5:c.58T>G	ENSP00000435896.1:p.Ser20Ala
ENST00000472750.5:c.71-483T>G	ENSP00000434633.1:n.71-483T>G
ENST00000524939.1:n.135T>G
ENST00000532508.5:n.90T>G
ENST00000532643.5:c.118T>G	ENSP00000435915.1:p.Ser40Ala
ENST00000533104.1:n.80-483T>G
ENST00000533699.5:n.112T>G
ENST00000556710.5:c.-175-483T>G	ENSP00000451235.1:n.-175-483T>G
ENST00000556710.6:c.71-483T>G	ENSP00000451235.2:n.71-483T>G