Canonical Allele Identifier: CA343263950

Gene: PEX19

Linked Data

• MyVariant Identifiers: chr1:g.160252883G>T (hg19) ; chr1:g.160283093G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160283093G>T , CM000663.2:g.160283093G>T	GRCh38
NC_000001.10:g.160252883G>T , CM000663.1:g.160252883G>T	GRCh37
NC_000001.9:g.158519507G>T	NCBI36
NG_008637.1:g.7059C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368072.10:c.197C>A MANE Select	ENSP00000357051.5:p.Ser66Tyr
ENST00000556710.6:c.87C>A	ENSP00000451235.2:p.Phe29Leu
ENST00000368072.9:c.197C>A	ENSP00000357051.5:p.Ser66Tyr
ENST00000392220.2:c.137C>A	ENSP00000376054.2:p.Ser46Tyr
ENST00000462644.5:c.137C>A	ENSP00000435896.1:p.Ser46Tyr
ENST00000472750.5:c.87C>A	ENSP00000434633.1:p.Phe29Leu
ENST00000524939.1:n.214C>A
ENST00000532508.5:n.169C>A
ENST00000532643.5:c.197C>A	ENSP00000435915.1:p.Ser66Tyr
ENST00000533104.1:n.96C>A
ENST00000533699.5:n.191C>A
ENST00000556710.5:c.-159C>A	ENSP00000451235.1:n.-159C>A
NM_001193644.1:c.197C>A	NP_001180573.1:p.Ser66Tyr
NM_002857.3:c.197C>A	NP_002848.1:p.Ser66Tyr
NR_036492.1:n.114C>A
NR_036493.1:n.224C>A
NM_002857.4:c.197C>A MANE Select	NP_002848.1:p.Ser66Tyr
NR_036492.2:n.96C>A
NR_036493.2:n.206C>A