Canonical Allele Identifier: CA515263554

Gene: SHANK3

Linked Data

• dbSNP Id: rs1440756630
• gnomAD v2: 22-51160234-G-T
• gnomAD v4: 22-50721806-G-T
• MyVariant Identifiers: chr22:g.51160234G>T (hg19) ; chr22:g.50721806G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721806G>T , CM000684.2:g.50721806G>T	GRCh38
NC_000022.10:g.51160234G>T , CM000684.1:g.51160234G>T	GRCh37
NC_000022.9:g.49507100G>T	NCBI36
NG_008607.2:g.52452G>T
NG_070230.1:g.57590G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3574G>T	ENSP00000489147.2:p.Gly1192Cys
ENST00000414786.7:n.4158G>T
ENST00000445220.7:c.2626G>T	ENSP00000489407.2:p.Gly876Cys
ENST00000664402.2:c.2116G>T	ENSP00000499475.1:p.Gly706Cys
ENST00000673971.2:c.*2572G>T	ENSP00000501192.1:n.*2572G>T
ENST00000445220.6:c.2626G>T	ENSP00000489407.2:p.Gly876Cys
ENST00000262795.6:c.3574G>T	ENSP00000489147.2:p.Gly1192Cys
ENST00000664402.1:c.2116G>T	ENSP00000499475.1:p.Gly706Cys
ENST00000673971.1:c.*2572G>T	ENSP00000501192.1:n.*2572G>T
ENST00000262795.5:c.3970G>T	ENSP00000489147.1:p.Gly1324Cys
ENST00000414786.6:n.4158G>T
ENST00000445220.5:c.3952G>T	ENSP00000489407.1:p.Gly1318Cys