Canonical Allele Identifier: CA515264903

Gene: SHANK3

Linked Data

• dbSNP Id: rs1481608305
• gnomAD v3: 22-50722250-C-T
• gnomAD v4: 22-50722250-C-T
• MyVariant Identifiers: chr22:g.51160678C>T (hg19) ; chr22:g.50722250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722250C>T , CM000684.2:g.50722250C>T	GRCh38
NC_000022.10:g.51160678C>T , CM000684.1:g.51160678C>T	GRCh37
NC_000022.9:g.49507544C>T	NCBI36
NG_008607.2:g.52896C>T
NG_070230.1:g.58034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4018C>T	ENSP00000489147.2:p.Leu1340=
ENST00000414786.7:n.4602C>T
ENST00000445220.7:c.3070C>T	ENSP00000489407.2:p.Leu1024=
ENST00000664402.2:c.2560C>T	ENSP00000499475.1:p.Leu854=
ENST00000673971.2:c.*3016C>T	ENSP00000501192.1:n.*3016C>T
ENST00000445220.6:c.3070C>T	ENSP00000489407.2:p.Leu1024=
ENST00000262795.6:c.4018C>T	ENSP00000489147.2:p.Leu1340=
ENST00000664402.1:c.2560C>T	ENSP00000499475.1:p.Leu854=
ENST00000673971.1:c.*3016C>T	ENSP00000501192.1:n.*3016C>T
ENST00000262795.5:c.4414C>T	ENSP00000489147.1:p.Leu1472=
ENST00000414786.6:n.4602C>T
ENST00000445220.5:c.4396C>T	ENSP00000489407.1:p.Leu1466=