Canonical Allele Identifier: CA515262884

Gene: SHANK3

Linked Data

• dbSNP Id: rs1160186820
• gnomAD v2: 22-51159997-G-A
• MyVariant Identifiers: chr22:g.51159997G>A (hg19) ; chr22:g.50721569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721569G>A , CM000684.2:g.50721569G>A	GRCh38
NC_000022.10:g.51159997G>A , CM000684.1:g.51159997G>A	GRCh37
NC_000022.9:g.49506863G>A	NCBI36
NG_008607.2:g.52215G>A
NG_070230.1:g.57353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3337G>A	ENSP00000489147.2:p.Ala1113Thr
ENST00000414786.7:n.3921G>A
ENST00000445220.7:c.2389G>A	ENSP00000489407.2:p.Ala797Thr
ENST00000664402.2:c.1879G>A	ENSP00000499475.1:p.Ala627Thr
ENST00000673971.2:c.*2335G>A	ENSP00000501192.1:n.*2335G>A
ENST00000445220.6:c.2389G>A	ENSP00000489407.2:p.Ala797Thr
ENST00000262795.6:c.3337G>A	ENSP00000489147.2:p.Ala1113Thr
ENST00000664402.1:c.1879G>A	ENSP00000499475.1:p.Ala627Thr
ENST00000673971.1:c.*2335G>A	ENSP00000501192.1:n.*2335G>A
ENST00000262795.5:c.3733G>A	ENSP00000489147.1:p.Ala1245Thr
ENST00000414786.6:n.3921G>A
ENST00000445220.5:c.3715G>A	ENSP00000489407.1:p.Ala1239Thr