Canonical Allele Identifier: CA343265739

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160285053A>C , CM000663.2:g.160285053A>C	GRCh38
NC_000001.10:g.160254843A>C , CM000663.1:g.160254843A>C	GRCh37
NC_000001.9:g.158521467A>C	NCBI36
NG_008637.1:g.5099T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.70+2T>G MANE Select	NP_002848.1:n.70+2T>G
ENST00000368072.10:c.70+2T>G MANE Select	ENSP00000357051.5:n.70+2T>G
NM_001193644.1:c.70+2T>G	NP_001180573.1:n.70+2T>G
NM_002857.3:c.70+2T>G	NP_002848.1:n.70+2T>G
NR_036492.1:n.97+2T>G
NR_036492.2:n.79+2T>G
NR_036493.1:n.97+2T>G
NR_036493.2:n.79+2T>G
ENST00000368072.9:c.70+2T>G	ENSP00000357051.5:n.70+2T>G
ENST00000472750.5:c.70+2T>G	ENSP00000434633.1:n.70+2T>G
ENST00000524939.1:n.87+2T>G
ENST00000532508.5:n.42+2T>G
ENST00000532643.5:c.70+2T>G	ENSP00000435915.1:n.70+2T>G
ENST00000533104.1:n.79+2T>G
ENST00000533699.5:n.64+1232T>G
ENST00000556710.5:c.-176+2T>G	ENSP00000451235.1:n.-176+2T>G
ENST00000556710.6:c.70+2T>G	ENSP00000451235.2:n.70+2T>G
XR_001738265.1:n.88+198A>C