Canonical Allele Identifier: CA515263181

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721678-C-G
• MyVariant Identifiers: chr22:g.51160106C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721678C>G , CM000684.2:g.50721678C>G	GRCh38
NC_000022.10:g.51160106C>G , CM000684.1:g.51160106C>G	GRCh37
NC_000022.9:g.49506972C>G	NCBI36
NG_008607.2:g.52324C>G
NG_070230.1:g.57462C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3446C>G	ENSP00000489147.2:p.Ala1149Gly
ENST00000414786.7:n.4030C>G
ENST00000445220.7:c.2498C>G	ENSP00000489407.2:p.Ala833Gly
ENST00000664402.2:c.1988C>G	ENSP00000499475.1:p.Ala663Gly
ENST00000673971.2:c.*2444C>G	ENSP00000501192.1:n.*2444C>G
ENST00000445220.6:c.2498C>G	ENSP00000489407.2:p.Ala833Gly
ENST00000262795.6:c.3446C>G	ENSP00000489147.2:p.Ala1149Gly
ENST00000664402.1:c.1988C>G	ENSP00000499475.1:p.Ala663Gly
ENST00000673971.1:c.*2444C>G	ENSP00000501192.1:n.*2444C>G
ENST00000262795.5:c.3842C>G	ENSP00000489147.1:p.Ala1281Gly
ENST00000414786.6:n.4030C>G
ENST00000445220.5:c.3824C>G	ENSP00000489407.1:p.Ala1275Gly