Canonical Allele Identifier: CA1624187127
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722165C= , CM000668.2:g.42722165C= GRCh38
NC_000006.11:g.42689903C= , CM000668.1:g.42689903C= GRCh37
NC_000006.10:g.42797881C= NCBI36
NG_009176.1:g.5456G=
NG_009176.2:g.5456G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.170G= MANE Select ENSP00000230381.5:p.Ser57=
ENST00000230381.6:c.170G= ENSP00000230381.5:p.Ser57=
NM_000322.4:c.170G= NP_000313.2:p.Ser57=
XR_427834.2:n.825G=
XR_926295.1:n.825G=
XR_427834.4:n.875G=
XR_926295.3:n.875G=
NM_000322.5:c.170G= MANE Select NP_000313.2:p.Ser57=