Canonical Allele Identifier: CA364138551
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722162T>G , CM000668.2:g.42722162T>G GRCh38
NC_000006.11:g.42689900T>G , CM000668.1:g.42689900T>G GRCh37
NC_000006.10:g.42797878T>G NCBI36
NG_009176.1:g.5459A>C
NG_009176.2:g.5459A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.173A>C MANE Select ENSP00000230381.5:p.His58Pro
ENST00000230381.6:c.173A>C ENSP00000230381.5:p.His58Pro
NM_000322.4:c.173A>C NP_000313.2:p.His58Pro
XR_427834.2:n.828A>C
XR_926295.1:n.828A>C
XR_427834.4:n.878A>C
XR_926295.3:n.878A>C
NM_000322.5:c.173A>C MANE Select NP_000313.2:p.His58Pro