Canonical Allele Identifier: CA515264570

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083296655
• gnomAD v3: 22-50722144-C-T
• gnomAD v4: 22-50722144-C-T
• MyVariant Identifiers: chr22:g.51160572C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722144C>T , CM000684.2:g.50722144C>T	GRCh38
NC_000022.10:g.51160572C>T , CM000684.1:g.51160572C>T	GRCh37
NC_000022.9:g.49507438C>T	NCBI36
NG_008607.2:g.52790C>T
NG_070230.1:g.57928C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3912C>T	ENSP00000489147.2:p.Ser1304=
ENST00000414786.7:n.4496C>T
ENST00000445220.7:c.2964C>T	ENSP00000489407.2:p.Ser988=
ENST00000664402.2:c.2454C>T	ENSP00000499475.1:p.Ser818=
ENST00000673971.2:c.*2910C>T	ENSP00000501192.1:n.*2910C>T
ENST00000445220.6:c.2964C>T	ENSP00000489407.2:p.Ser988=
ENST00000262795.6:c.3912C>T	ENSP00000489147.2:p.Ser1304=
ENST00000664402.1:c.2454C>T	ENSP00000499475.1:p.Ser818=
ENST00000673971.1:c.*2910C>T	ENSP00000501192.1:n.*2910C>T
ENST00000262795.5:c.4308C>T	ENSP00000489147.1:p.Ser1436=
ENST00000414786.6:n.4496C>T
ENST00000445220.5:c.4290C>T	ENSP00000489407.1:p.Ser1430=