Canonical Allele Identifier: CA10326201

Gene: SHANK3

Linked Data

• dbSNP Id: rs574816703
• ExAC: 22:51160323 C / T
• gnomAD v2: 22-51160323-C-T
• gnomAD v3: 22-50721895-C-T
• gnomAD v4: 22-50721895-C-T
• MyVariant Identifiers: chr22:g.51160323C>T (hg19) ; chr22:g.50721895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721895C>T , CM000684.2:g.50721895C>T	GRCh38
NC_000022.10:g.51160323C>T , CM000684.1:g.51160323C>T	GRCh37
NC_000022.9:g.49507189C>T	NCBI36
NG_008607.2:g.52541C>T
NG_070230.1:g.57679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3663C>T	ENSP00000489147.2:p.Asp1221=
ENST00000414786.7:n.4247C>T
ENST00000445220.7:c.2715C>T	ENSP00000489407.2:p.Asp905=
ENST00000664402.2:c.2205C>T	ENSP00000499475.1:p.Asp735=
ENST00000673971.2:c.*2661C>T	ENSP00000501192.1:n.*2661C>T
ENST00000445220.6:c.2715C>T	ENSP00000489407.2:p.Asp905=
ENST00000262795.6:c.3663C>T	ENSP00000489147.2:p.Asp1221=
ENST00000664402.1:c.2205C>T	ENSP00000499475.1:p.Asp735=
ENST00000673971.1:c.*2661C>T	ENSP00000501192.1:n.*2661C>T
ENST00000262795.5:c.4059C>T	ENSP00000489147.1:p.Asp1353=
ENST00000414786.6:n.4247C>T
ENST00000445220.5:c.4041C>T	ENSP00000489407.1:p.Asp1347=