Canonical Allele Identifier: CA1624186954

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721789A= , CM000668.2:g.42721789A=	GRCh38
NC_000006.11:g.42689527A= , CM000668.1:g.42689527A=	GRCh37
NC_000006.10:g.42797505A=	NCBI36
NG_009176.1:g.5832T=
NG_009176.2:g.5832T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.546T= MANE Select	ENSP00000230381.5:p.Asn182=
ENST00000230381.6:c.546T=	ENSP00000230381.5:p.Asn182=
NM_000322.4:c.546T=	NP_000313.2:p.Asn182=
XR_427834.2:n.1201T=
XR_926295.1:n.1201T=
XR_427834.4:n.1251T=
XR_926295.3:n.1251T=
NM_000322.5:c.546T= MANE Select	NP_000313.2:p.Asn182=