Canonical Allele Identifier: CA174289403
Gene: SCARA5 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.27907238C>T
GRCh37 chr8:g.27764755C>T
Revel Score:
ENST00000354914 (MANE Select) 0.938
ENST00000380385 0.938
ENST00000517320 0.938
ENST00000524352 0.938
ENST00000518030 0.938
ENST00000301906 0.938
gnomAD v2:
8:27764755 C / T
gnomAD v3:
8:27907238 C / T
gnomAD v4:
chr8-27907238-C-T
Joint Max Group AF 0.0000074 (EAS)
Genomes Max Group AF 0.0000684 (EAS)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV004096200
ClinVar Variation:
2234616
dbSNP:
1022398722
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27907238C>T , CM000670.2:g.27907238C>T GRCh38
NC_000008.10:g.27764755C>T , CM000670.1:g.27764755C>T GRCh37
NC_000008.9:g.27820674C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354914.8:c.1006G>A MANE Select ENSP00000346990.3:p.Gly336Arg
ENST00000354914.7:c.1006G>A ENSP00000346990.3:p.Gly336Arg
ENST00000380385.6:c.331G>A ENSP00000369746.2:p.Gly111Arg
ENST00000518030.1:c.877G>A ENSP00000430713.1:p.Gly293Arg
ENST00000524352.5:c.1006G>A ENSP00000428663.1:p.Gly336Arg
NM_173833.5:c.1006G>A NP_776194.2:p.Gly336Arg
XR_949612.1:n.555-1752C>T
XR_949613.1:n.555-1752C>T
XR_001745855.2:n.590-1752C>T
XR_001745856.2:n.595-1752C>T
XR_949613.3:n.595-1752C>T
NM_173833.6:c.1006G>A MANE Select NP_776194.2:p.Gly336Arg
Search 100 bp 5'
Search 100 bp 3'