Canonical Allele Identifier: CA515260786

Gene: SHANK3

Linked Data

• dbSNP Id: rs375976744
• gnomAD v2: 22-51159391-C-A
• gnomAD v4: 22-50720963-C-A
• MyVariant Identifiers: chr22:g.51159391C>A (hg19) ; chr22:g.50720963C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720963C>A , CM000684.2:g.50720963C>A	GRCh38
NC_000022.10:g.51159391C>A , CM000684.1:g.51159391C>A	GRCh37
NC_000022.9:g.49506257C>A	NCBI36
NG_008607.2:g.51609C>A
NG_070230.1:g.56747C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2731C>A	ENSP00000489147.2:p.Leu911Met
ENST00000414786.7:n.3315C>A
ENST00000445220.7:c.1783C>A	ENSP00000489407.2:p.Leu595Met
ENST00000664402.2:c.1273C>A	ENSP00000499475.1:p.Leu425Met
ENST00000673971.2:c.*1729C>A	ENSP00000501192.1:n.*1729C>A
ENST00000445220.6:c.1783C>A	ENSP00000489407.2:p.Leu595Met
ENST00000262795.6:c.2731C>A	ENSP00000489147.2:p.Leu911Met
ENST00000664402.1:c.1273C>A	ENSP00000499475.1:p.Leu425Met
ENST00000673971.1:c.*1729C>A	ENSP00000501192.1:n.*1729C>A
ENST00000262795.5:c.3127C>A	ENSP00000489147.1:p.Leu1043Met
ENST00000414786.6:n.3315C>A
ENST00000445220.5:c.3109C>A	ENSP00000489407.1:p.Leu1037Met