Canonical Allele Identifier: CA1624186955
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721794T= , CM000668.2:g.42721794T= GRCh38
NC_000006.11:g.42689532T= , CM000668.1:g.42689532T= GRCh37
NC_000006.10:g.42797510T= NCBI36
NG_009176.1:g.5827A=
NG_009176.2:g.5827A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.541A= MANE Select ENSP00000230381.5:p.Ser181=
ENST00000230381.6:c.541A= ENSP00000230381.5:p.Ser181=
NM_000322.4:c.541A= NP_000313.2:p.Ser181=
XR_427834.2:n.1196A=
XR_926295.1:n.1196A=
XR_427834.4:n.1246A=
XR_926295.3:n.1246A=
NM_000322.5:c.541A= MANE Select NP_000313.2:p.Ser181=