Canonical Allele Identifier: CA364138008
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722048G>T , CM000668.2:g.42722048G>T GRCh38
NC_000006.11:g.42689786G>T , CM000668.1:g.42689786G>T GRCh37
NC_000006.10:g.42797764G>T NCBI36
NG_009176.1:g.5573C>A
NG_009176.2:g.5573C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.287C>A MANE Select ENSP00000230381.5:p.Pro96His
ENST00000230381.6:c.287C>A ENSP00000230381.5:p.Pro96His
NM_000322.4:c.287C>A NP_000313.2:p.Pro96His
XR_427834.2:n.942C>A
XR_926295.1:n.942C>A
XR_427834.4:n.992C>A
XR_926295.3:n.992C>A
NM_000322.5:c.287C>A MANE Select NP_000313.2:p.Pro96His