Canonical Allele Identifier: CA1624187025
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721936C= , CM000668.2:g.42721936C= GRCh38
NC_000006.11:g.42689674C= , CM000668.1:g.42689674C= GRCh37
NC_000006.10:g.42797652C= NCBI36
NG_009176.1:g.5685G=
NG_009176.2:g.5685G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.399G= MANE Select ENSP00000230381.5:p.Gly133=
ENST00000230381.6:c.399G= ENSP00000230381.5:p.Gly133=
NM_000322.4:c.399G= NP_000313.2:p.Gly133=
XR_427834.2:n.1054G=
XR_926295.1:n.1054G=
XR_427834.4:n.1104G=
XR_926295.3:n.1104G=
NM_000322.5:c.399G= MANE Select NP_000313.2:p.Gly133=