Canonical Allele Identifier: CA515260657

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720916-T-G
• MyVariant Identifiers: chr22:g.51159344T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720916T>G , CM000684.2:g.50720916T>G	GRCh38
NC_000022.10:g.51159344T>G , CM000684.1:g.51159344T>G	GRCh37
NC_000022.9:g.49506210T>G	NCBI36
NG_008607.2:g.51562T>G
NG_070230.1:g.56700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2684T>G	ENSP00000489147.2:p.Val895Gly
ENST00000414786.7:n.3268T>G
ENST00000445220.7:c.1736T>G	ENSP00000489407.2:p.Val579Gly
ENST00000664402.2:c.1226T>G	ENSP00000499475.1:p.Val409Gly
ENST00000673971.2:c.*1682T>G	ENSP00000501192.1:n.*1682T>G
ENST00000445220.6:c.1736T>G	ENSP00000489407.2:p.Val579Gly
ENST00000262795.6:c.2684T>G	ENSP00000489147.2:p.Val895Gly
ENST00000664402.1:c.1226T>G	ENSP00000499475.1:p.Val409Gly
ENST00000673971.1:c.*1682T>G	ENSP00000501192.1:n.*1682T>G
ENST00000262795.5:c.3080T>G	ENSP00000489147.1:p.Val1027Gly
ENST00000414786.6:n.3268T>G
ENST00000445220.5:c.3062T>G	ENSP00000489407.1:p.Val1021Gly