Canonical Allele Identifier: CA515260977

Gene: SHANK3

Linked Data

• dbSNP Id: rs1251641017
• gnomAD v2: 22-51159462-C-T
• gnomAD v3: 22-50721034-C-T
• gnomAD v4: 22-50721034-C-T
• MyVariant Identifiers: chr22:g.51159462C>T (hg19) ; chr22:g.50721034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721034C>T , CM000684.2:g.50721034C>T	GRCh38
NC_000022.10:g.51159462C>T , CM000684.1:g.51159462C>T	GRCh37
NC_000022.9:g.49506328C>T	NCBI36
NG_008607.2:g.51680C>T
NG_070230.1:g.56818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2802C>T	ENSP00000489147.2:p.Asp934=
ENST00000414786.7:n.3386C>T
ENST00000445220.7:c.1854C>T	ENSP00000489407.2:p.Asp618=
ENST00000664402.2:c.1344C>T	ENSP00000499475.1:p.Asp448=
ENST00000673971.2:c.*1800C>T	ENSP00000501192.1:n.*1800C>T
ENST00000445220.6:c.1854C>T	ENSP00000489407.2:p.Asp618=
ENST00000262795.6:c.2802C>T	ENSP00000489147.2:p.Asp934=
ENST00000664402.1:c.1344C>T	ENSP00000499475.1:p.Asp448=
ENST00000673971.1:c.*1800C>T	ENSP00000501192.1:n.*1800C>T
ENST00000262795.5:c.3198C>T	ENSP00000489147.1:p.Asp1066=
ENST00000414786.6:n.3386C>T
ENST00000445220.5:c.3180C>T	ENSP00000489407.1:p.Asp1060=