Canonical Allele Identifier: CA515255093

Gene: SHANK3

Linked Data

• dbSNP Id: rs1348837166
• gnomAD v2: 22-51136080-G-A
• gnomAD v3: 22-50697652-G-A
• gnomAD v4: 22-50697652-G-A
• MyVariant Identifiers: chr22:g.51136080G>A (hg19) ; chr22:g.50697652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697652G>A , CM000684.2:g.50697652G>A	GRCh38
NC_000022.10:g.51136080G>A , CM000684.1:g.51136080G>A	GRCh37
NC_000022.9:g.49482946G>A	NCBI36
NG_008607.2:g.28298G>A
NG_070230.1:g.33517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1036G>A	ENSP00000489147.2:p.Val346Met
ENST00000414786.7:n.1620G>A
ENST00000445220.7:c.88G>A	ENSP00000489407.2:p.Val30Met
ENST00000673971.2:c.1393G>A	ENSP00000501192.1:p.Val465Met
ENST00000445220.6:c.88G>A	ENSP00000489407.2:p.Val30Met
ENST00000262795.6:c.1036G>A	ENSP00000489147.2:p.Val346Met
ENST00000673971.1:c.1393G>A	ENSP00000501192.1:p.Val465Met
ENST00000673995.1:c.89G>A
ENST00000262795.5:c.1432G>A	ENSP00000489147.1:p.Val478Met
ENST00000414786.6:n.1620G>A
ENST00000445220.5:c.1414G>A	ENSP00000489407.1:p.Val472Met