Canonical Allele Identifier: CA364138940
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42690050A>T (hg19) chr6:g.42722312A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722312A>T , CM000668.2:g.42722312A>T GRCh38
NC_000006.11:g.42690050A>T , CM000668.1:g.42690050A>T GRCh37
NC_000006.10:g.42798028A>T NCBI36
NG_009176.1:g.5309T>A
NG_009176.2:g.5309T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.23T>A MANE Select ENSP00000230381.5:p.Phe8Tyr
ENST00000230381.6:c.23T>A ENSP00000230381.5:p.Phe8Tyr
NM_000322.4:c.23T>A NP_000313.2:p.Phe8Tyr
XR_427834.2:n.678T>A
XR_926295.1:n.678T>A
XR_427834.4:n.728T>A
XR_926295.3:n.728T>A
NM_000322.5:c.23T>A MANE Select NP_000313.2:p.Phe8Tyr
Search 100 bp 5'
Search 100 bp 3'