Canonical Allele Identifier: CA515260007

Gene: SHANK3

Linked Data

• dbSNP Id: rs1340094921
• gnomAD v2: 22-51159116-G-T
• gnomAD v3: 22-50720688-G-T
• gnomAD v4: 22-50720688-G-T
• MyVariant Identifiers: chr22:g.51159116G>T (hg19) ; chr22:g.51159116_51159117delinsTC (hg19) ; chr22:g.50720688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720688G>T , CM000684.2:g.50720688G>T	GRCh38
NC_000022.10:g.51159116G>T , CM000684.1:g.51159116G>T	GRCh37
NC_000022.9:g.49505982G>T	NCBI36
NG_008607.2:g.51334G>T
NG_070230.1:g.56472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2456G>T	ENSP00000489147.2:p.Ser819Ile
ENST00000414786.7:n.3040G>T
ENST00000445220.7:c.1508G>T	ENSP00000489407.2:p.Ser503Ile
ENST00000664402.2:c.998G>T	ENSP00000499475.1:p.Ser333Ile
ENST00000673971.2:c.*1454G>T	ENSP00000501192.1:n.*1454G>T
ENST00000445220.6:c.1508G>T	ENSP00000489407.2:p.Ser503Ile
ENST00000262795.6:c.2456G>T	ENSP00000489147.2:p.Ser819Ile
ENST00000664402.1:c.998G>T	ENSP00000499475.1:p.Ser333Ile
ENST00000673971.1:c.*1454G>T	ENSP00000501192.1:n.*1454G>T
ENST00000262795.5:c.2852G>T	ENSP00000489147.1:p.Ser951Ile
ENST00000414786.6:n.3040G>T
ENST00000445220.5:c.2834G>T	ENSP00000489407.1:p.Ser945Ile