Canonical Allele Identifier: CA211283
Gene: WNT10A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.218890256G>A
GRCh37 chr2:g.219754978G>A
Revel Score:
ENST00000258411 (MANE Select) 0.145
gnomAD v2:
2:219754978 G / A
gnomAD v3:
2:218890256 G / A
gnomAD v4:
chr2-218890256-G-A
Joint Max Group AF 0.0003967 (NFE)
Genomes Max Group AF 0.00035415 (NFE)
Exomes Max Group AF 0.00039209 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218890256G>A , CM000664.2:g.218890256G>A GRCh38
NC_000002.11:g.219754978G>A , CM000664.1:g.219754978G>A GRCh37
NC_000002.10:g.219463222G>A NCBI36
NG_012179.1:g.14724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258411.8:c.649G>A MANE Select ENSP00000258411.3:p.Asp217Asn
ENST00000258411.7:c.649G>A ENSP00000258411.3:p.Asp217Asn
ENST00000458582.1:c.264-2518G>A
NM_025216.2:c.649G>A NP_079492.2:p.Asp217Asn
XM_011511928.1:c.598G>A XP_011510230.1:p.Asp200Asn
XM_011511929.1:c.553G>A XP_011510231.1:p.Asp185Asn
XM_011511930.1:c.377-2518G>A XP_011510232.1:n.377-2518G>A
XM_011511929.2:c.553G>A XP_011510231.1:p.Asp185Asn
NM_025216.3:c.649G>A MANE Select NP_079492.2:p.Asp217Asn
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