Canonical Allele Identifier: CA515260765

Gene: SHANK3

Linked Data

• dbSNP Id: rs1401756662
• gnomAD v2: 22-51159383-G-C
• MyVariant Identifiers: chr22:g.51159383G>C (hg19) ; chr22:g.50720955G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720955G>C , CM000684.2:g.50720955G>C	GRCh38
NC_000022.10:g.51159383G>C , CM000684.1:g.51159383G>C	GRCh37
NC_000022.9:g.49506249G>C	NCBI36
NG_008607.2:g.51601G>C
NG_070230.1:g.56739G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2723G>C	ENSP00000489147.2:p.Gly908Ala
ENST00000414786.7:n.3307G>C
ENST00000445220.7:c.1775G>C	ENSP00000489407.2:p.Gly592Ala
ENST00000664402.2:c.1265G>C	ENSP00000499475.1:p.Gly422Ala
ENST00000673971.2:c.*1721G>C	ENSP00000501192.1:n.*1721G>C
ENST00000445220.6:c.1775G>C	ENSP00000489407.2:p.Gly592Ala
ENST00000262795.6:c.2723G>C	ENSP00000489147.2:p.Gly908Ala
ENST00000664402.1:c.1265G>C	ENSP00000499475.1:p.Gly422Ala
ENST00000673971.1:c.*1721G>C	ENSP00000501192.1:n.*1721G>C
ENST00000262795.5:c.3119G>C	ENSP00000489147.1:p.Gly1040Ala
ENST00000414786.6:n.3307G>C
ENST00000445220.5:c.3101G>C	ENSP00000489407.1:p.Gly1034Ala