Canonical Allele Identifier: CA364137744
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42689723A>C (hg19) chr6:g.42721985A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721985A>C , CM000668.2:g.42721985A>C GRCh38
NC_000006.11:g.42689723A>C , CM000668.1:g.42689723A>C GRCh37
NC_000006.10:g.42797701A>C NCBI36
NG_009176.1:g.5636T>G
NG_009176.2:g.5636T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.350T>G MANE Select ENSP00000230381.5:p.Leu117Arg
ENST00000230381.6:c.350T>G ENSP00000230381.5:p.Leu117Arg
NM_000322.4:c.350T>G NP_000313.2:p.Leu117Arg
XR_427834.2:n.1005T>G
XR_926295.1:n.1005T>G
XR_427834.4:n.1055T>G
XR_926295.3:n.1055T>G
NM_000322.5:c.350T>G MANE Select NP_000313.2:p.Leu117Arg
Search 100 bp 5'
Search 100 bp 3'