Canonical Allele Identifier: CA364137684
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721954C>G , CM000668.2:g.42721954C>G GRCh38
NC_000006.11:g.42689692C>G , CM000668.1:g.42689692C>G GRCh37
NC_000006.10:g.42797670C>G NCBI36
NG_009176.1:g.5667G>C
NG_009176.2:g.5667G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.381G>C MANE Select ENSP00000230381.5:p.Glu127Asp
ENST00000230381.6:c.381G>C ENSP00000230381.5:p.Glu127Asp
NM_000322.4:c.381G>C NP_000313.2:p.Glu127Asp
XR_427834.2:n.1036G>C
XR_926295.1:n.1036G>C
XR_427834.4:n.1086G>C
XR_926295.3:n.1086G>C
NM_000322.5:c.381G>C MANE Select NP_000313.2:p.Glu127Asp