Canonical Allele Identifier: CA123381
Gene: PRPH HGNC NCBI
TROAP-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49295621G>T
GRCh37 chr12:g.49689404G>T
Revel Score:
ENST00000257860 (MANE Select) 0.710
gnomAD v2:
12:49689404 G / T
gnomAD v3:
12:49295621 G / T
gnomAD v4:
chr12-49295621-G-T
Joint Max Group AF 0.00651744 (NFE)
Genomes Max Group AF 0.00539157 (NFE)
Exomes Max Group AF 0.00656245 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49295621G>T , CM000674.2:g.49295621G>T GRCh38
NC_000012.11:g.49689404G>T , CM000674.1:g.49689404G>T GRCh37
NC_000012.10:g.47975671G>T NCBI36
NG_008354.1:g.5496G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257860.9:c.421G>T (PRPH) MANE Select ENSP00000257860.4:p.Asp141Tyr
ENST00000257860.8:c.421G>T (PRPH) ENSP00000257860.4:p.Asp141Tyr
ENST00000451891.4:c.100-18G>T (PRPH) ENSP00000408897.4:n.100-18G>T
NM_006262.3:c.421G>T (PRPH) NP_006253.2:p.Asp141Tyr
NR_120449.1:n.2451C>A (TROAP-AS1)
XM_005269025.1:c.421G>T (PRPH) XP_005269082.1:p.Asp141Tyr
XR_944623.1:n.609G>T (PRPH)
XM_005269025.2:c.421G>T (PRPH) XP_005269082.1:p.Asp141Tyr
XR_944623.2:n.478G>T (PRPH)
NM_006262.4:c.421G>T (PRPH) MANE Select NP_006253.2:p.Asp141Tyr
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