Canonical Allele Identifier: CA364137596
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42689653G>T (hg19) chr6:g.42721915G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721915G>T , CM000668.2:g.42721915G>T GRCh38
NC_000006.11:g.42689653G>T , CM000668.1:g.42689653G>T GRCh37
NC_000006.10:g.42797631G>T NCBI36
NG_009176.1:g.5706C>A
NG_009176.2:g.5706C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.420C>A MANE Select ENSP00000230381.5:p.Tyr140Ter
ENST00000230381.6:c.420C>A ENSP00000230381.5:p.Tyr140Ter
NM_000322.4:c.420C>A NP_000313.2:p.Tyr140Ter
XR_427834.2:n.1075C>A
XR_926295.1:n.1075C>A
XR_427834.4:n.1125C>A
XR_926295.3:n.1125C>A
NM_000322.5:c.420C>A MANE Select NP_000313.2:p.Tyr140Ter
Search 100 bp 5'
Search 100 bp 3'