Canonical Allele Identifier: CA421361873
Community Standard Title: NM_002857.4(PEX19):c.477G>A (p.Gly159=)
Gene: PEX19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160282156C>T , CM000663.2:g.160282156C>T GRCh38
NC_000001.10:g.160251946C>T , CM000663.1:g.160251946C>T GRCh37
NC_000001.9:g.158518570C>T NCBI36
NG_008637.1:g.7996G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002857.4:c.477G>A MANE Select NP_002848.1:p.Gly159=
ENST00000368072.10:c.477G>A MANE Select ENSP00000357051.5:p.Gly159=
NM_001193644.1:c.477G>A NP_001180573.1:p.Gly159=
NM_002857.3:c.477G>A NP_002848.1:p.Gly159=
NR_036492.1:n.394G>A
NR_036492.2:n.376G>A
NR_036493.1:n.418G>A
NR_036493.2:n.400G>A
ENST00000368072.9:c.477G>A ENSP00000357051.5:p.Gly159=
ENST00000392220.2:c.417G>A ENSP00000376054.2:p.Gly139=
ENST00000462644.5:c.331G>A ENSP00000435896.1:p.Ala111Thr
ENST00000472750.5:c.*244G>A ENSP00000434633.1:n.*244G>A
ENST00000485079.1:c.87G>A ENSP00000450870.1:p.Gly29=
ENST00000532508.5:n.449G>A
ENST00000532516.1:n.364G>A
ENST00000532643.5:c.391G>A ENSP00000435915.1:p.Ala131Thr
ENST00000533104.1:n.494G>A
ENST00000533699.5:n.471G>A
ENST00000556710.5:c.36G>A ENSP00000451235.1:p.Gly12=
ENST00000556710.6:c.*158G>A ENSP00000451235.2:n.*158G>A