Canonical Allele Identifier: CA1624187057
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722014G= , CM000668.2:g.42722014G= GRCh38
NC_000006.11:g.42689752G= , CM000668.1:g.42689752G= GRCh37
NC_000006.10:g.42797730G= NCBI36
NG_009176.1:g.5607C=
NG_009176.2:g.5607C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.321C= MANE Select ENSP00000230381.5:p.Leu107=
ENST00000230381.6:c.321C= ENSP00000230381.5:p.Leu107=
NM_000322.4:c.321C= NP_000313.2:p.Leu107=
XR_427834.2:n.976C=
XR_926295.1:n.976C=
XR_427834.4:n.1026C=
XR_926295.3:n.1026C=
NM_000322.5:c.321C= MANE Select NP_000313.2:p.Leu107=