Canonical Allele Identifier: CA10326055
Gene: SHANK3 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50721350G>A
GRCh37 chr22:g.51159778G>A
Revel Score:
ENST00000262795 0.096
ENST00000445220 0.096
gnomAD v2:
22:51159778 G / A
gnomAD v3:
22:50721350 G / A
gnomAD v4:
chr22-50721350-G-A
Joint Max Group AF 0.01315698 (EAS)
Genomes Max Group AF 0.00737097 (EAS)
Exomes Max Group AF 0.01367609 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721350G>A , CM000684.2:g.50721350G>A GRCh38
NC_000022.10:g.51159778G>A , CM000684.1:g.51159778G>A GRCh37
NC_000022.9:g.49506644G>A NCBI36
NG_008607.2:g.51996G>A
NG_070230.1:g.57134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3118G>A ENSP00000489147.2:p.Ala1040Thr
ENST00000414786.7:n.3702G>A
ENST00000445220.7:c.2170G>A ENSP00000489407.2:p.Ala724Thr
ENST00000664402.2:c.1660G>A ENSP00000499475.1:p.Ala554Thr
ENST00000673971.2:c.*2116G>A ENSP00000501192.1:n.*2116G>A
ENST00000445220.6:c.2170G>A ENSP00000489407.2:p.Ala724Thr
ENST00000262795.6:c.3118G>A ENSP00000489147.2:p.Ala1040Thr
ENST00000664402.1:c.1660G>A ENSP00000499475.1:p.Ala554Thr
ENST00000673971.1:c.*2116G>A ENSP00000501192.1:n.*2116G>A
ENST00000262795.5:c.3514G>A ENSP00000489147.1:p.Ala1172Thr
ENST00000414786.6:n.3702G>A
ENST00000445220.5:c.3496G>A ENSP00000489407.1:p.Ala1166Thr
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