Canonical Allele Identifier: CA515260648

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083280043
• gnomAD v3: 22-50720913-C-G
• gnomAD v4: 22-50720913-C-G
• MyVariant Identifiers: chr22:g.51159341C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720913C>G , CM000684.2:g.50720913C>G	GRCh38
NC_000022.10:g.51159341C>G , CM000684.1:g.51159341C>G	GRCh37
NC_000022.9:g.49506207C>G	NCBI36
NG_008607.2:g.51559C>G
NG_070230.1:g.56697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2681C>G	ENSP00000489147.2:p.Thr894Ser
ENST00000414786.7:n.3265C>G
ENST00000445220.7:c.1733C>G	ENSP00000489407.2:p.Thr578Ser
ENST00000664402.2:c.1223C>G	ENSP00000499475.1:p.Thr408Ser
ENST00000673971.2:c.*1679C>G	ENSP00000501192.1:n.*1679C>G
ENST00000445220.6:c.1733C>G	ENSP00000489407.2:p.Thr578Ser
ENST00000262795.6:c.2681C>G	ENSP00000489147.2:p.Thr894Ser
ENST00000664402.1:c.1223C>G	ENSP00000499475.1:p.Thr408Ser
ENST00000673971.1:c.*1679C>G	ENSP00000501192.1:n.*1679C>G
ENST00000262795.5:c.3077C>G	ENSP00000489147.1:p.Thr1026Ser
ENST00000414786.6:n.3265C>G
ENST00000445220.5:c.3059C>G	ENSP00000489407.1:p.Thr1020Ser