Canonical Allele Identifier: CA1624187044

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721967C= , CM000668.2:g.42721967C=	GRCh38
NC_000006.11:g.42689705C= , CM000668.1:g.42689705C=	GRCh37
NC_000006.10:g.42797683C=	NCBI36
NG_009176.1:g.5654G=
NG_009176.2:g.5654G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.368G= MANE Select	ENSP00000230381.5:p.Arg123=
ENST00000230381.6:c.368G=	ENSP00000230381.5:p.Arg123=
NM_000322.4:c.368G=	NP_000313.2:p.Arg123=
XR_427834.2:n.1023G=
XR_926295.1:n.1023G=
XR_427834.4:n.1073G=
XR_926295.3:n.1073G=
NM_000322.5:c.368G= MANE Select	NP_000313.2:p.Arg123=