Canonical Allele Identifier: CA364137882
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722024A>T , CM000668.2:g.42722024A>T GRCh38
NC_000006.11:g.42689762A>T , CM000668.1:g.42689762A>T GRCh37
NC_000006.10:g.42797740A>T NCBI36
NG_009176.1:g.5597T>A
NG_009176.2:g.5597T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.311T>A MANE Select ENSP00000230381.5:p.Ile104Asn
ENST00000230381.6:c.311T>A ENSP00000230381.5:p.Ile104Asn
NM_000322.4:c.311T>A NP_000313.2:p.Ile104Asn
XR_427834.2:n.966T>A
XR_926295.1:n.966T>A
XR_427834.4:n.1016T>A
XR_926295.3:n.1016T>A
NM_000322.5:c.311T>A MANE Select NP_000313.2:p.Ile104Asn