Canonical Allele Identifier: CA364138929
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42690046G>T (hg19) chr6:g.42722308G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722308G>T , CM000668.2:g.42722308G>T GRCh38
NC_000006.11:g.42690046G>T , CM000668.1:g.42690046G>T GRCh37
NC_000006.10:g.42798024G>T NCBI36
NG_009176.1:g.5313C>A
NG_009176.2:g.5313C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.27C>A MANE Select ENSP00000230381.5:p.Asp9Glu
ENST00000230381.6:c.27C>A ENSP00000230381.5:p.Asp9Glu
NM_000322.4:c.27C>A NP_000313.2:p.Asp9Glu
XR_427834.2:n.682C>A
XR_926295.1:n.682C>A
XR_427834.4:n.732C>A
XR_926295.3:n.732C>A
NM_000322.5:c.27C>A MANE Select NP_000313.2:p.Asp9Glu
Search 100 bp 5'
Search 100 bp 3'