Canonical Allele Identifier: CA10326017

Gene: SHANK3

Linked Data

• dbSNP Id: rs747874740
• ExAC: 22:51159659 G / C
• gnomAD v2: 22-51159659-G-C
• gnomAD v3: 22-50721231-G-C
• gnomAD v4: 22-50721231-G-C
• MyVariant Identifiers: chr22:g.51159659G>C (hg19) ; chr22:g.50721231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721231G>C , CM000684.2:g.50721231G>C	GRCh38
NC_000022.10:g.51159659G>C , CM000684.1:g.51159659G>C	GRCh37
NC_000022.9:g.49506525G>C	NCBI36
NG_008607.2:g.51877G>C
NG_070230.1:g.57015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2999G>C	ENSP00000489147.2:p.Ser1000Thr
ENST00000414786.7:n.3583G>C
ENST00000445220.7:c.2051G>C	ENSP00000489407.2:p.Ser684Thr
ENST00000664402.2:c.1541G>C	ENSP00000499475.1:p.Ser514Thr
ENST00000673971.2:c.*1997G>C	ENSP00000501192.1:n.*1997G>C
ENST00000445220.6:c.2051G>C	ENSP00000489407.2:p.Ser684Thr
ENST00000262795.6:c.2999G>C	ENSP00000489147.2:p.Ser1000Thr
ENST00000664402.1:c.1541G>C	ENSP00000499475.1:p.Ser514Thr
ENST00000673971.1:c.*1997G>C	ENSP00000501192.1:n.*1997G>C
ENST00000262795.5:c.3395G>C	ENSP00000489147.1:p.Ser1132Thr
ENST00000414786.6:n.3583G>C
ENST00000445220.5:c.3377G>C	ENSP00000489407.1:p.Ser1126Thr