Canonical Allele Identifier: CA3808643

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 1175211
• ClinVar RCV Id: RCV001530214 ; RCV001873748
• dbSNP Id: rs760311433
• ExAC: 6:42689820 C / T
• gnomAD v2: 6-42689820-C-T
• gnomAD v3: 6-42722082-C-T
• gnomAD v4: 6-42722082-C-T
• MyVariant Identifiers: chr6:g.42689820C>T (hg19) ; chr6:g.42722082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722082C>T , CM000668.2:g.42722082C>T	GRCh38
NC_000006.11:g.42689820C>T , CM000668.1:g.42689820C>T	GRCh37
NC_000006.10:g.42797798C>T	NCBI36
NG_009176.1:g.5539G>A
NG_009176.2:g.5539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.253G>A MANE Select	ENSP00000230381.5:p.Ala85Thr
ENST00000230381.6:c.253G>A	ENSP00000230381.5:p.Ala85Thr
NM_000322.4:c.253G>A	NP_000313.2:p.Ala85Thr
XR_427834.2:n.908G>A
XR_926295.1:n.908G>A
XR_427834.4:n.958G>A
XR_926295.3:n.958G>A
NM_000322.5:c.253G>A MANE Select	NP_000313.2:p.Ala85Thr