Canonical Allele Identifier: CA515262250

Gene: SHANK3

Linked Data

• dbSNP Id: rs1170262479
• gnomAD v2: 22-51159821-C-T
• gnomAD v3: 22-50721393-C-T
• gnomAD v4: 22-50721393-C-T
• MyVariant Identifiers: chr22:g.51159821C>T (hg19) ; chr22:g.50721393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721393C>T , CM000684.2:g.50721393C>T	GRCh38
NC_000022.10:g.51159821C>T , CM000684.1:g.51159821C>T	GRCh37
NC_000022.9:g.49506687C>T	NCBI36
NG_008607.2:g.52039C>T
NG_070230.1:g.57177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3161C>T	ENSP00000489147.2:p.Ser1054Leu
ENST00000414786.7:n.3745C>T
ENST00000445220.7:c.2213C>T	ENSP00000489407.2:p.Ser738Leu
ENST00000664402.2:c.1703C>T	ENSP00000499475.1:p.Ser568Leu
ENST00000673971.2:c.*2159C>T	ENSP00000501192.1:n.*2159C>T
ENST00000445220.6:c.2213C>T	ENSP00000489407.2:p.Ser738Leu
ENST00000262795.6:c.3161C>T	ENSP00000489147.2:p.Ser1054Leu
ENST00000664402.1:c.1703C>T	ENSP00000499475.1:p.Ser568Leu
ENST00000673971.1:c.*2159C>T	ENSP00000501192.1:n.*2159C>T
ENST00000262795.5:c.3557C>T	ENSP00000489147.1:p.Ser1186Leu
ENST00000414786.6:n.3745C>T
ENST00000445220.5:c.3539C>T	ENSP00000489407.1:p.Ser1180Leu