Canonical Allele Identifier: CA450362432
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42721762-T-C
MyVariant Identifiers: chr6:g.42689500T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721762T>C , CM000668.2:g.42721762T>C GRCh38
NC_000006.11:g.42689500T>C , CM000668.1:g.42689500T>C GRCh37
NC_000006.10:g.42797478T>C NCBI36
NG_009176.1:g.5859A>G
NG_009176.2:g.5859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.573A>G MANE Select ENSP00000230381.5:p.Glu191=
ENST00000230381.6:c.573A>G ENSP00000230381.5:p.Glu191=
NM_000322.4:c.573A>G NP_000313.2:p.Glu191=
XR_427834.2:n.1228A>G
XR_926295.1:n.1228A>G
XR_427834.4:n.1278A>G
XR_926295.3:n.1278A>G
NM_000322.5:c.573A>G MANE Select NP_000313.2:p.Glu191=
Search 100 bp 5'
Search 100 bp 3'