Canonical Allele Identifier: CA364138694
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722198-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722198C>A , CM000668.2:g.42722198C>A GRCh38
NC_000006.11:g.42689936C>A , CM000668.1:g.42689936C>A GRCh37
NC_000006.10:g.42797914C>A NCBI36
NG_009176.1:g.5423G>T
NG_009176.2:g.5423G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.137G>T MANE Select ENSP00000230381.5:p.Arg46Leu
ENST00000230381.6:c.137G>T ENSP00000230381.5:p.Arg46Leu
NM_000322.4:c.137G>T NP_000313.2:p.Arg46Leu
XR_427834.2:n.792G>T
XR_926295.1:n.792G>T
XR_427834.4:n.842G>T
XR_926295.3:n.842G>T
NM_000322.5:c.137G>T MANE Select NP_000313.2:p.Arg46Leu