Canonical Allele Identifier: CA343264123
Community Standard Title: NM_002857.4(PEX19):c.181-2A>G
Gene: PEX19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160283111T>C , CM000663.2:g.160283111T>C GRCh38
NC_000001.10:g.160252901T>C , CM000663.1:g.160252901T>C GRCh37
NC_000001.9:g.158519525T>C NCBI36
NG_008637.1:g.7041A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002857.4:c.181-2A>G MANE Select NP_002848.1:n.181-2A>G
ENST00000368072.10:c.181-2A>G MANE Select ENSP00000357051.5:n.181-2A>G
NM_001193644.1:c.181-2A>G NP_001180573.1:n.181-2A>G
NM_002857.3:c.181-2A>G NP_002848.1:n.181-2A>G
NR_036492.1:n.98-2A>G
NR_036492.2:n.80-2A>G
NR_036493.1:n.208-2A>G
NR_036493.2:n.190-2A>G
ENST00000368072.9:c.181-2A>G ENSP00000357051.5:n.181-2A>G
ENST00000392220.2:c.121-2A>G ENSP00000376054.2:n.121-2A>G
ENST00000462644.5:c.121-2A>G ENSP00000435896.1:n.121-2A>G
ENST00000472750.5:c.71-2A>G ENSP00000434633.1:n.71-2A>G
ENST00000524939.1:n.198-2A>G
ENST00000532508.5:n.153-2A>G
ENST00000532643.5:c.181-2A>G ENSP00000435915.1:n.181-2A>G
ENST00000533104.1:n.80-2A>G
ENST00000533699.5:n.175-2A>G
ENST00000556710.5:c.-175-2A>G ENSP00000451235.1:n.-175-2A>G
ENST00000556710.6:c.71-2A>G ENSP00000451235.2:n.71-2A>G