Canonical Allele Identifier: CA6551008

Gene: PRPH TROAP-AS1

Linked Data

• ClinVar Variation Id: 425005
• ClinVar RCV Id: RCV000488011 ; RCV003932785
• dbSNP Id: rs73112142
• ExAC: 12:49691057 G / A
• gnomAD v2: 12-49691057-G-A
• gnomAD v3: 12-49297274-G-A
• gnomAD v4: 12-49297274-G-A
• MyVariant Identifiers: chr12:g.49691057G>A (hg19) ; chr12:g.49297274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49297274G>A , CM000674.2:g.49297274G>A	GRCh38
NC_000012.11:g.49691057G>A , CM000674.1:g.49691057G>A	GRCh37
NC_000012.10:g.47977324G>A	NCBI36
NG_008354.1:g.7149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257860.9:c.996+1G>A (PRPH) MANE Select	ENSP00000257860.4:n.996+1G>A
ENST00000257860.8:c.996+1G>A (PRPH)	ENSP00000257860.4:n.996+1G>A
ENST00000530631.1:n.153+1G>A (PRPH)
ENST00000532332.2:c.181+1G>A (PRPH)
ENST00000533401.1:n.878+1G>A (PRPH)
NM_006262.3:c.996+1G>A (PRPH)	NP_006253.2:n.996+1G>A
NR_120449.1:n.929C>T (TROAP-AS1)
XM_005269025.1:c.996+1G>A (PRPH)	XP_005269082.1:n.996+1G>A
XR_944623.1:n.1314+1G>A (PRPH)
XM_005269025.2:c.996+1G>A (PRPH)	XP_005269082.1:n.996+1G>A
XR_944623.2:n.1183+1G>A (PRPH)
NM_006262.4:c.996+1G>A (PRPH) MANE Select	NP_006253.2:n.996+1G>A