Canonical Allele Identifier: CA364138700
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722202G>T , CM000668.2:g.42722202G>T GRCh38
NC_000006.11:g.42689940G>T , CM000668.1:g.42689940G>T GRCh37
NC_000006.10:g.42797918G>T NCBI36
NG_009176.1:g.5419C>A
NG_009176.2:g.5419C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.133C>A MANE Select ENSP00000230381.5:p.Leu45Ile
ENST00000230381.6:c.133C>A ENSP00000230381.5:p.Leu45Ile
NM_000322.4:c.133C>A NP_000313.2:p.Leu45Ile
XR_427834.2:n.788C>A
XR_926295.1:n.788C>A
XR_427834.4:n.838C>A
XR_926295.3:n.838C>A
NM_000322.5:c.133C>A MANE Select NP_000313.2:p.Leu45Ile