Canonical Allele Identifier: CA1624186964

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721812A= , CM000668.2:g.42721812A=	GRCh38
NC_000006.11:g.42689550A= , CM000668.1:g.42689550A=	GRCh37
NC_000006.10:g.42797528A=	NCBI36
NG_009176.1:g.5809T=
NG_009176.2:g.5809T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.523T= MANE Select	ENSP00000230381.5:p.Phe175=
ENST00000230381.6:c.523T=	ENSP00000230381.5:p.Phe175=
NM_000322.4:c.523T=	NP_000313.2:p.Phe175=
XR_427834.2:n.1178T=
XR_926295.1:n.1178T=
XR_427834.4:n.1228T=
XR_926295.3:n.1228T=
NM_000322.5:c.523T= MANE Select	NP_000313.2:p.Phe175=