Canonical Allele Identifier: CA1624187250
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722415G= , CM000668.2:g.42722415G= GRCh38
NC_000006.11:g.42690153G= , CM000668.1:g.42690153G= GRCh37
NC_000006.10:g.42798131G= NCBI36
NG_009176.1:g.5206C=
NG_009176.2:g.5206C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-81C= MANE Select ENSP00000230381.5:n.-81C=
ENST00000230381.6:c.-81C= ENSP00000230381.5:n.-81C=
NM_000322.4:c.-81C= NP_000313.2:n.-81C=
XR_427834.2:n.575C=
XR_926295.1:n.575C=
XR_427834.4:n.625C=
XR_926295.3:n.625C=
NM_000322.5:c.-81C= MANE Select NP_000313.2:n.-81C=