Canonical Allele Identifier: CA1624186952

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721787C= , CM000668.2:g.42721787C=	GRCh38
NC_000006.11:g.42689525C= , CM000668.1:g.42689525C=	GRCh37
NC_000006.10:g.42797503C=	NCBI36
NG_009176.1:g.5834G=
NG_009176.2:g.5834G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.548G= MANE Select	ENSP00000230381.5:p.Arg183=
ENST00000230381.6:c.548G=	ENSP00000230381.5:p.Arg183=
NM_000322.4:c.548G=	NP_000313.2:p.Arg183=
XR_427834.2:n.1203G=
XR_926295.1:n.1203G=
XR_427834.4:n.1253G=
XR_926295.3:n.1253G=
NM_000322.5:c.548G= MANE Select	NP_000313.2:p.Arg183=