Canonical Allele Identifier: CA343262745

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282942A>G , CM000663.2:g.160282942A>G	GRCh38
NC_000001.10:g.160252732A>G , CM000663.1:g.160252732A>G	GRCh37
NC_000001.9:g.158519356A>G	NCBI36
NG_008637.1:g.7210T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.346+2T>C MANE Select	NP_002848.1:n.346+2T>C
ENST00000368072.10:c.346+2T>C MANE Select	ENSP00000357051.5:n.346+2T>C
NM_001193644.1:c.346+2T>C	NP_001180573.1:n.346+2T>C
NM_002857.3:c.346+2T>C	NP_002848.1:n.346+2T>C
NR_036492.1:n.263+2T>C
NR_036492.2:n.245+2T>C
NR_036493.1:n.373+2T>C
NR_036493.2:n.355+2T>C
ENST00000368072.9:c.346+2T>C	ENSP00000357051.5:n.346+2T>C
ENST00000392220.2:c.286+2T>C	ENSP00000376054.2:n.286+2T>C
ENST00000462644.5:c.286+2T>C	ENSP00000435896.1:n.286+2T>C
ENST00000472750.5:c.*113+2T>C	ENSP00000434633.1:n.*113+2T>C
ENST00000524939.1:n.363+2T>C
ENST00000532508.5:n.318+2T>C
ENST00000532643.5:c.346+2T>C	ENSP00000435915.1:n.346+2T>C
ENST00000533104.1:n.247T>C
ENST00000533699.5:n.340+2T>C
ENST00000556710.5:c.-10+2T>C	ENSP00000451235.1:n.-10+2T>C
ENST00000556710.6:c.*113+2T>C	ENSP00000451235.2:n.*113+2T>C