Canonical Allele Identifier: CA10326095

Gene: SHANK3

Linked Data

• dbSNP Id: rs371876840
• ExAC: 22:51159912 C / G
• gnomAD v2: 22-51159912-C-G
• gnomAD v4: 22-50721484-C-G
• MyVariant Identifiers: chr22:g.51159912C>G (hg19) ; chr22:g.50721484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721484C>G , CM000684.2:g.50721484C>G	GRCh38
NC_000022.10:g.51159912C>G , CM000684.1:g.51159912C>G	GRCh37
NC_000022.9:g.49506778C>G	NCBI36
NG_008607.2:g.52130C>G
NG_070230.1:g.57268C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3252C>G	ENSP00000489147.2:p.Asn1084Lys
ENST00000414786.7:n.3836C>G
ENST00000445220.7:c.2304C>G	ENSP00000489407.2:p.Asn768Lys
ENST00000664402.2:c.1794C>G	ENSP00000499475.1:p.Asn598Lys
ENST00000673971.2:c.*2250C>G	ENSP00000501192.1:n.*2250C>G
ENST00000445220.6:c.2304C>G	ENSP00000489407.2:p.Asn768Lys
ENST00000262795.6:c.3252C>G	ENSP00000489147.2:p.Asn1084Lys
ENST00000664402.1:c.1794C>G	ENSP00000499475.1:p.Asn598Lys
ENST00000673971.1:c.*2250C>G	ENSP00000501192.1:n.*2250C>G
ENST00000262795.5:c.3648C>G	ENSP00000489147.1:p.Asn1216Lys
ENST00000414786.6:n.3836C>G
ENST00000445220.5:c.3630C>G	ENSP00000489407.1:p.Asn1210Lys