Canonical Allele Identifier: CA1624187048

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721984G= , CM000668.2:g.42721984G=	GRCh38
NC_000006.11:g.42689722G= , CM000668.1:g.42689722G=	GRCh37
NC_000006.10:g.42797700G=	NCBI36
NG_009176.1:g.5637C=
NG_009176.2:g.5637C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.351C= MANE Select	ENSP00000230381.5:p.Leu117=
ENST00000230381.6:c.351C=	ENSP00000230381.5:p.Leu117=
NM_000322.4:c.351C=	NP_000313.2:p.Leu117=
XR_427834.2:n.1006C=
XR_926295.1:n.1006C=
XR_427834.4:n.1056C=
XR_926295.3:n.1056C=
NM_000322.5:c.351C= MANE Select	NP_000313.2:p.Leu117=