Canonical Allele Identifier: CA1624186986
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721857G= , CM000668.2:g.42721857G= GRCh38
NC_000006.11:g.42689595G= , CM000668.1:g.42689595G= GRCh37
NC_000006.10:g.42797573G= NCBI36
NG_009176.1:g.5764C=
NG_009176.2:g.5764C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.478C= MANE Select ENSP00000230381.5:p.Gln160=
ENST00000230381.6:c.478C= ENSP00000230381.5:p.Gln160=
NM_000322.4:c.478C= NP_000313.2:p.Gln160=
XR_427834.2:n.1133C=
XR_926295.1:n.1133C=
XR_427834.4:n.1183C=
XR_926295.3:n.1183C=
NM_000322.5:c.478C= MANE Select NP_000313.2:p.Gln160=