Canonical Allele Identifier: CA1624186977

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721828G= , CM000668.2:g.42721828G=	GRCh38
NC_000006.11:g.42689566G= , CM000668.1:g.42689566G=	GRCh37
NC_000006.10:g.42797544G=	NCBI36
NG_009176.1:g.5793C=
NG_009176.2:g.5793C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.507C= MANE Select	ENSP00000230381.5:p.Asn169=
ENST00000230381.6:c.507C=	ENSP00000230381.5:p.Asn169=
NM_000322.4:c.507C=	NP_000313.2:p.Asn169=
XR_427834.2:n.1162C=
XR_926295.1:n.1162C=
XR_427834.4:n.1212C=
XR_926295.3:n.1212C=
NM_000322.5:c.507C= MANE Select	NP_000313.2:p.Asn169=