Canonical Allele Identifier: CA1624187086

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722066T= , CM000668.2:g.42722066T=	GRCh38
NC_000006.11:g.42689804T= , CM000668.1:g.42689804T=	GRCh37
NC_000006.10:g.42797782T=	NCBI36
NG_009176.1:g.5555A=
NG_009176.2:g.5555A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.269A= MANE Select	ENSP00000230381.5:p.Lys90=
ENST00000230381.6:c.269A=	ENSP00000230381.5:p.Lys90=
NM_000322.4:c.269A=	NP_000313.2:p.Lys90=
XR_427834.2:n.924A=
XR_926295.1:n.924A=
XR_427834.4:n.974A=
XR_926295.3:n.974A=
NM_000322.5:c.269A= MANE Select	NP_000313.2:p.Lys90=