Canonical Allele Identifier: CA364138771
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722235T>G , CM000668.2:g.42722235T>G GRCh38
NC_000006.11:g.42689973T>G , CM000668.1:g.42689973T>G GRCh37
NC_000006.10:g.42797951T>G NCBI36
NG_009176.1:g.5386A>C
NG_009176.2:g.5386A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.100A>C MANE Select ENSP00000230381.5:p.Ile34Leu
ENST00000230381.6:c.100A>C ENSP00000230381.5:p.Ile34Leu
NM_000322.4:c.100A>C NP_000313.2:p.Ile34Leu
XR_427834.2:n.755A>C
XR_926295.1:n.755A>C
XR_427834.4:n.805A>C
XR_926295.3:n.805A>C
NM_000322.5:c.100A>C MANE Select NP_000313.2:p.Ile34Leu