Canonical Allele Identifier: CA364137959
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722038C>A , CM000668.2:g.42722038C>A GRCh38
NC_000006.11:g.42689776C>A , CM000668.1:g.42689776C>A GRCh37
NC_000006.10:g.42797754C>A NCBI36
NG_009176.1:g.5583G>T
NG_009176.2:g.5583G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.297G>T MANE Select ENSP00000230381.5:p.Lys99Asn
ENST00000230381.6:c.297G>T ENSP00000230381.5:p.Lys99Asn
NM_000322.4:c.297G>T NP_000313.2:p.Lys99Asn
XR_427834.2:n.952G>T
XR_926295.1:n.952G>T
XR_427834.4:n.1002G>T
XR_926295.3:n.1002G>T
NM_000322.5:c.297G>T MANE Select NP_000313.2:p.Lys99Asn