Canonical Allele Identifier: CA515261103

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721081-G-A
• MyVariant Identifiers: chr22:g.51159509G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721081G>A , CM000684.2:g.50721081G>A	GRCh38
NC_000022.10:g.51159509G>A , CM000684.1:g.51159509G>A	GRCh37
NC_000022.9:g.49506375G>A	NCBI36
NG_008607.2:g.51727G>A
NG_070230.1:g.56865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2849G>A	ENSP00000489147.2:p.Gly950Asp
ENST00000414786.7:n.3433G>A
ENST00000445220.7:c.1901G>A	ENSP00000489407.2:p.Gly634Asp
ENST00000664402.2:c.1391G>A	ENSP00000499475.1:p.Gly464Asp
ENST00000673971.2:c.*1847G>A	ENSP00000501192.1:n.*1847G>A
ENST00000445220.6:c.1901G>A	ENSP00000489407.2:p.Gly634Asp
ENST00000262795.6:c.2849G>A	ENSP00000489147.2:p.Gly950Asp
ENST00000664402.1:c.1391G>A	ENSP00000499475.1:p.Gly464Asp
ENST00000673971.1:c.*1847G>A	ENSP00000501192.1:n.*1847G>A
ENST00000262795.5:c.3245G>A	ENSP00000489147.1:p.Gly1082Asp
ENST00000414786.6:n.3433G>A
ENST00000445220.5:c.3227G>A	ENSP00000489407.1:p.Gly1076Asp