Canonical Allele Identifier: CA10325964

Gene: SHANK3

Linked Data

• dbSNP Id: rs760319207
• ExAC: 22:51159411 C / G
• gnomAD v2: 22-51159411-C-G
• gnomAD v3: 22-50720983-C-G
• gnomAD v4: 22-50720983-C-G
• MyVariant Identifiers: chr22:g.51159411C>G (hg19) ; chr22:g.50720983C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720983C>G , CM000684.2:g.50720983C>G	GRCh38
NC_000022.10:g.51159411C>G , CM000684.1:g.51159411C>G	GRCh37
NC_000022.9:g.49506277C>G	NCBI36
NG_008607.2:g.51629C>G
NG_070230.1:g.56767C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2751C>G	ENSP00000489147.2:p.Ser917=
ENST00000414786.7:n.3335C>G
ENST00000445220.7:c.1803C>G	ENSP00000489407.2:p.Ser601=
ENST00000664402.2:c.1293C>G	ENSP00000499475.1:p.Ser431=
ENST00000673971.2:c.*1749C>G	ENSP00000501192.1:n.*1749C>G
ENST00000445220.6:c.1803C>G	ENSP00000489407.2:p.Ser601=
ENST00000262795.6:c.2751C>G	ENSP00000489147.2:p.Ser917=
ENST00000664402.1:c.1293C>G	ENSP00000499475.1:p.Ser431=
ENST00000673971.1:c.*1749C>G	ENSP00000501192.1:n.*1749C>G
ENST00000262795.5:c.3147C>G	ENSP00000489147.1:p.Ser1049=
ENST00000414786.6:n.3335C>G
ENST00000445220.5:c.3129C>G	ENSP00000489407.1:p.Ser1043=