Canonical Allele Identifier: CA1624187065

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722023G= , CM000668.2:g.42722023G=	GRCh38
NC_000006.11:g.42689761G= , CM000668.1:g.42689761G=	GRCh37
NC_000006.10:g.42797739G=	NCBI36
NG_009176.1:g.5598C=
NG_009176.2:g.5598C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.312C= MANE Select	ENSP00000230381.5:p.Ile104=
ENST00000230381.6:c.312C=	ENSP00000230381.5:p.Ile104=
NM_000322.4:c.312C=	NP_000313.2:p.Ile104=
XR_427834.2:n.967C=
XR_926295.1:n.967C=
XR_427834.4:n.1017C=
XR_926295.3:n.1017C=
NM_000322.5:c.312C= MANE Select	NP_000313.2:p.Ile104=