Canonical Allele Identifier: CA6550892

Gene: PRPH TROAP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49296431G>A , CM000674.2:g.49296431G>A	GRCh38
NC_000012.11:g.49690214G>A , CM000674.1:g.49690214G>A	GRCh37
NC_000012.10:g.47976481G>A	NCBI36
NG_008354.1:g.6306G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006262.4:c.607-1G>A (PRPH) MANE Select	NP_006253.2:n.607-1G>A
ENST00000257860.9:c.607-1G>A (PRPH) MANE Select	ENSP00000257860.4:n.607-1G>A
NM_006262.3:c.607-1G>A (PRPH)	NP_006253.2:n.607-1G>A
NR_120449.1:n.1641C>T (TROAP-AS1)
ENST00000257860.8:c.607-1G>A (PRPH)	ENSP00000257860.4:n.607-1G>A
ENST00000451891.4:c.268-1G>A (PRPH)	ENSP00000408897.4:n.268-1G>A
ENST00000533401.1:n.489-1G>A (PRPH)
ENST00000537252.1:n.172-1G>A (PRPH)
XM_005269025.1:c.607-1G>A (PRPH)	XP_005269082.1:n.607-1G>A
XM_005269025.2:c.607-1G>A (PRPH)	XP_005269082.1:n.607-1G>A
XR_944623.1:n.925-1G>A (PRPH)
XR_944623.2:n.794-1G>A (PRPH)