Canonical Allele Identifier: CA450362551
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42689725A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721987A>C , CM000668.2:g.42721987A>C GRCh38
NC_000006.11:g.42689725A>C , CM000668.1:g.42689725A>C GRCh37
NC_000006.10:g.42797703A>C NCBI36
NG_009176.1:g.5634T>G
NG_009176.2:g.5634T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.348T>G MANE Select ENSP00000230381.5:p.Ala116=
ENST00000230381.6:c.348T>G ENSP00000230381.5:p.Ala116=
NM_000322.4:c.348T>G NP_000313.2:p.Ala116=
XR_427834.2:n.1003T>G
XR_926295.1:n.1003T>G
XR_427834.4:n.1053T>G
XR_926295.3:n.1053T>G
NM_000322.5:c.348T>G MANE Select NP_000313.2:p.Ala116=
Search 100 bp 5'
Search 100 bp 3'