Canonical Allele Identifier: CA364138894
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42690030T>C (hg19) chr6:g.42722292T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722292T>C , CM000668.2:g.42722292T>C GRCh38
NC_000006.11:g.42690030T>C , CM000668.1:g.42690030T>C GRCh37
NC_000006.10:g.42798008T>C NCBI36
NG_009176.1:g.5329A>G
NG_009176.2:g.5329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.43A>G MANE Select ENSP00000230381.5:p.Lys15Glu
ENST00000230381.6:c.43A>G ENSP00000230381.5:p.Lys15Glu
NM_000322.4:c.43A>G NP_000313.2:p.Lys15Glu
XR_427834.2:n.698A>G
XR_926295.1:n.698A>G
XR_427834.4:n.748A>G
XR_926295.3:n.748A>G
NM_000322.5:c.43A>G MANE Select NP_000313.2:p.Lys15Glu
Search 100 bp 5'
Search 100 bp 3'