Canonical Allele Identifier: CA1624187089
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722070C= , CM000668.2:g.42722070C= GRCh38
NC_000006.11:g.42689808C= , CM000668.1:g.42689808C= GRCh37
NC_000006.10:g.42797786C= NCBI36
NG_009176.1:g.5551G=
NG_009176.2:g.5551G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.265G= MANE Select ENSP00000230381.5:p.Ala89=
ENST00000230381.6:c.265G= ENSP00000230381.5:p.Ala89=
NM_000322.4:c.265G= NP_000313.2:p.Ala89=
XR_427834.2:n.920G=
XR_926295.1:n.920G=
XR_427834.4:n.970G=
XR_926295.3:n.970G=
NM_000322.5:c.265G= MANE Select NP_000313.2:p.Ala89=