Canonical Allele Identifier: CA364137780

Gene: PRPH2

Linked Data

• gnomAD v4: 6-42722003-A-G
• MyVariant Identifiers: chr6:g.42689741A>G (hg19) ; chr6:g.42722003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722003A>G , CM000668.2:g.42722003A>G	GRCh38
NC_000006.11:g.42689741A>G , CM000668.1:g.42689741A>G	GRCh37
NC_000006.10:g.42797719A>G	NCBI36
NG_009176.1:g.5618T>C
NG_009176.2:g.5618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.332T>C MANE Select	ENSP00000230381.5:p.Ile111Thr
ENST00000230381.6:c.332T>C	ENSP00000230381.5:p.Ile111Thr
NM_000322.4:c.332T>C	NP_000313.2:p.Ile111Thr
XR_427834.2:n.987T>C
XR_926295.1:n.987T>C
XR_427834.4:n.1037T>C
XR_926295.3:n.1037T>C
NM_000322.5:c.332T>C MANE Select	NP_000313.2:p.Ile111Thr