Canonical Allele Identifier: CA364137463
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721855C>A , CM000668.2:g.42721855C>A GRCh38
NC_000006.11:g.42689593C>A , CM000668.1:g.42689593C>A GRCh37
NC_000006.10:g.42797571C>A NCBI36
NG_009176.1:g.5766G>T
NG_009176.2:g.5766G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.480G>T MANE Select ENSP00000230381.5:p.Gln160His
ENST00000230381.6:c.480G>T ENSP00000230381.5:p.Gln160His
NM_000322.4:c.480G>T NP_000313.2:p.Gln160His
XR_427834.2:n.1135G>T
XR_926295.1:n.1135G>T
XR_427834.4:n.1185G>T
XR_926295.3:n.1185G>T
NM_000322.5:c.480G>T MANE Select NP_000313.2:p.Gln160His