Canonical Allele Identifier: CA343265763
Community Standard Title: NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)
Gene: PEX19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160285057T>G , CM000663.2:g.160285057T>G GRCh38
NC_000001.10:g.160254847T>G , CM000663.1:g.160254847T>G GRCh37
NC_000001.9:g.158521471T>G NCBI36
NG_008637.1:g.5095A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002857.4:c.68A>C MANE Select NP_002848.1:p.Glu23Ala
ENST00000368072.10:c.68A>C MANE Select ENSP00000357051.5:p.Glu23Ala
NM_001193644.1:c.68A>C NP_001180573.1:p.Glu23Ala
NM_002857.3:c.68A>C NP_002848.1:p.Glu23Ala
NR_036492.1:n.95A>C
NR_036492.2:n.77A>C
NR_036493.1:n.95A>C
NR_036493.2:n.77A>C
ENST00000368072.9:c.68A>C ENSP00000357051.5:p.Glu23Ala
ENST00000472750.5:c.68A>C ENSP00000434633.1:p.Glu23Ala
ENST00000524939.1:n.85A>C
ENST00000532508.5:n.40A>C
ENST00000532643.5:c.68A>C ENSP00000435915.1:p.Glu23Ala
ENST00000533104.1:n.77A>C
ENST00000533699.5:n.64+1228A>C
ENST00000556710.5:c.-178A>C ENSP00000451235.1:n.-178A>C
ENST00000556710.6:c.68A>C ENSP00000451235.2:p.Glu23Ala
XR_001738265.1:n.88+202T>G