Canonical Allele Identifier: CA450362681
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs61729453
gnomAD v3: 6-42722197-T-A
gnomAD v4: 6-42722197-T-A
MyVariant Identifiers: chr6:g.42689935T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722197T>A , CM000668.2:g.42722197T>A GRCh38
NC_000006.11:g.42689935T>A , CM000668.1:g.42689935T>A GRCh37
NC_000006.10:g.42797913T>A NCBI36
NG_009176.1:g.5424A>T
NG_009176.2:g.5424A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.138A>T MANE Select ENSP00000230381.5:p.Arg46=
ENST00000230381.6:c.138A>T ENSP00000230381.5:p.Arg46=
NM_000322.4:c.138A>T NP_000313.2:p.Arg46=
XR_427834.2:n.793A>T
XR_926295.1:n.793A>T
XR_427834.4:n.843A>T
XR_926295.3:n.843A>T
NM_000322.5:c.138A>T MANE Select NP_000313.2:p.Arg46=
Search 100 bp 5'
Search 100 bp 3'