Canonical Allele Identifier: CA1624187061

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722017A= , CM000668.2:g.42722017A=	GRCh38
NC_000006.11:g.42689755A= , CM000668.1:g.42689755A=	GRCh37
NC_000006.10:g.42797733A=	NCBI36
NG_009176.1:g.5604T=
NG_009176.2:g.5604T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.318T= MANE Select	ENSP00000230381.5:p.Val106=
ENST00000230381.6:c.318T=	ENSP00000230381.5:p.Val106=
NM_000322.4:c.318T=	NP_000313.2:p.Val106=
XR_427834.2:n.973T=
XR_926295.1:n.973T=
XR_427834.4:n.1023T=
XR_926295.3:n.1023T=
NM_000322.5:c.318T= MANE Select	NP_000313.2:p.Val106=