Canonical Allele Identifier: CA10326008

Gene: SHANK3

Linked Data

• dbSNP Id: rs767807282
• ExAC: 22:51159611 G / T
• gnomAD v2: 22-51159611-G-T
• gnomAD v4: 22-50721183-G-T
• MyVariant Identifiers: chr22:g.51159611G>T (hg19) ; chr22:g.50721183G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721183G>T , CM000684.2:g.50721183G>T	GRCh38
NC_000022.10:g.51159611G>T , CM000684.1:g.51159611G>T	GRCh37
NC_000022.9:g.49506477G>T	NCBI36
NG_008607.2:g.51829G>T
NG_070230.1:g.56967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2951G>T	ENSP00000489147.2:p.Arg984Leu
ENST00000414786.7:n.3535G>T
ENST00000445220.7:c.2003G>T	ENSP00000489407.2:p.Arg668Leu
ENST00000664402.2:c.1493G>T	ENSP00000499475.1:p.Arg498Leu
ENST00000673971.2:c.*1949G>T	ENSP00000501192.1:n.*1949G>T
ENST00000445220.6:c.2003G>T	ENSP00000489407.2:p.Arg668Leu
ENST00000262795.6:c.2951G>T	ENSP00000489147.2:p.Arg984Leu
ENST00000664402.1:c.1493G>T	ENSP00000499475.1:p.Arg498Leu
ENST00000673971.1:c.*1949G>T	ENSP00000501192.1:n.*1949G>T
ENST00000262795.5:c.3347G>T	ENSP00000489147.1:p.Arg1116Leu
ENST00000414786.6:n.3535G>T
ENST00000445220.5:c.3329G>T	ENSP00000489407.1:p.Arg1110Leu