Canonical Allele Identifier: CA515263338

Gene: SHANK3

Linked Data

• dbSNP Id: rs1226475157
• gnomAD v2: 22-51160162-C-T
• gnomAD v4: 22-50721734-C-T
• MyVariant Identifiers: chr22:g.51160162C>T (hg19) ; chr22:g.50721734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721734C>T , CM000684.2:g.50721734C>T	GRCh38
NC_000022.10:g.51160162C>T , CM000684.1:g.51160162C>T	GRCh37
NC_000022.9:g.49507028C>T	NCBI36
NG_008607.2:g.52380C>T
NG_070230.1:g.57518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3502C>T	ENSP00000489147.2:p.Leu1168=
ENST00000414786.7:n.4086C>T
ENST00000445220.7:c.2554C>T	ENSP00000489407.2:p.Leu852=
ENST00000664402.2:c.2044C>T	ENSP00000499475.1:p.Leu682=
ENST00000673971.2:c.*2500C>T	ENSP00000501192.1:n.*2500C>T
ENST00000445220.6:c.2554C>T	ENSP00000489407.2:p.Leu852=
ENST00000262795.6:c.3502C>T	ENSP00000489147.2:p.Leu1168=
ENST00000664402.1:c.2044C>T	ENSP00000499475.1:p.Leu682=
ENST00000673971.1:c.*2500C>T	ENSP00000501192.1:n.*2500C>T
ENST00000262795.5:c.3898C>T	ENSP00000489147.1:p.Leu1300=
ENST00000414786.6:n.4086C>T
ENST00000445220.5:c.3880C>T	ENSP00000489407.1:p.Leu1294=