Canonical Allele Identifier: CA515260979

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083281882
• gnomAD v4: 22-50721035-C-T
• MyVariant Identifiers: chr22:g.51159463C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721035C>T , CM000684.2:g.50721035C>T	GRCh38
NC_000022.10:g.51159463C>T , CM000684.1:g.51159463C>T	GRCh37
NC_000022.9:g.49506329C>T	NCBI36
NG_008607.2:g.51681C>T
NG_070230.1:g.56819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2803C>T	ENSP00000489147.2:p.Leu935=
ENST00000414786.7:n.3387C>T
ENST00000445220.7:c.1855C>T	ENSP00000489407.2:p.Leu619=
ENST00000664402.2:c.1345C>T	ENSP00000499475.1:p.Leu449=
ENST00000673971.2:c.*1801C>T	ENSP00000501192.1:n.*1801C>T
ENST00000445220.6:c.1855C>T	ENSP00000489407.2:p.Leu619=
ENST00000262795.6:c.2803C>T	ENSP00000489147.2:p.Leu935=
ENST00000664402.1:c.1345C>T	ENSP00000499475.1:p.Leu449=
ENST00000673971.1:c.*1801C>T	ENSP00000501192.1:n.*1801C>T
ENST00000262795.5:c.3199C>T	ENSP00000489147.1:p.Leu1067=
ENST00000414786.6:n.3387C>T
ENST00000445220.5:c.3181C>T	ENSP00000489407.1:p.Leu1061=