Canonical Allele Identifier: CA515260840

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159410C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720982C>A , CM000684.2:g.50720982C>A	GRCh38
NC_000022.10:g.51159410C>A , CM000684.1:g.51159410C>A	GRCh37
NC_000022.9:g.49506276C>A	NCBI36
NG_008607.2:g.51628C>A
NG_070230.1:g.56766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2750C>A	ENSP00000489147.2:p.Ser917Tyr
ENST00000414786.7:n.3334C>A
ENST00000445220.7:c.1802C>A	ENSP00000489407.2:p.Ser601Tyr
ENST00000664402.2:c.1292C>A	ENSP00000499475.1:p.Ser431Tyr
ENST00000673971.2:c.*1748C>A	ENSP00000501192.1:n.*1748C>A
ENST00000445220.6:c.1802C>A	ENSP00000489407.2:p.Ser601Tyr
ENST00000262795.6:c.2750C>A	ENSP00000489147.2:p.Ser917Tyr
ENST00000664402.1:c.1292C>A	ENSP00000499475.1:p.Ser431Tyr
ENST00000673971.1:c.*1748C>A	ENSP00000501192.1:n.*1748C>A
ENST00000262795.5:c.3146C>A	ENSP00000489147.1:p.Ser1049Tyr
ENST00000414786.6:n.3334C>A
ENST00000445220.5:c.3128C>A	ENSP00000489407.1:p.Ser1043Tyr