Canonical Allele Identifier: CA364137823
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722013A>T , CM000668.2:g.42722013A>T GRCh38
NC_000006.11:g.42689751A>T , CM000668.1:g.42689751A>T GRCh37
NC_000006.10:g.42797729A>T NCBI36
NG_009176.1:g.5608T>A
NG_009176.2:g.5608T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.322T>A MANE Select ENSP00000230381.5:p.Phe108Ile
ENST00000230381.6:c.322T>A ENSP00000230381.5:p.Phe108Ile
NM_000322.4:c.322T>A NP_000313.2:p.Phe108Ile
XR_427834.2:n.977T>A
XR_926295.1:n.977T>A
XR_427834.4:n.1027T>A
XR_926295.3:n.1027T>A
NM_000322.5:c.322T>A MANE Select NP_000313.2:p.Phe108Ile