Canonical Allele Identifier: CA515264682

Gene: SHANK3

Linked Data

• dbSNP Id: rs749920586
• gnomAD v3: 22-50722181-G-T
• gnomAD v4: 22-50722181-G-T
• MyVariant Identifiers: chr22:g.51160609G>T (hg19) ; chr22:g.50722181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722181G>T , CM000684.2:g.50722181G>T	GRCh38
NC_000022.10:g.51160609G>T , CM000684.1:g.51160609G>T	GRCh37
NC_000022.9:g.49507475G>T	NCBI36
NG_008607.2:g.52827G>T
NG_070230.1:g.57965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3949G>T	ENSP00000489147.2:p.Ala1317Ser
ENST00000414786.7:n.4533G>T
ENST00000445220.7:c.3001G>T	ENSP00000489407.2:p.Ala1001Ser
ENST00000664402.2:c.2491G>T	ENSP00000499475.1:p.Ala831Ser
ENST00000673971.2:c.*2947G>T	ENSP00000501192.1:n.*2947G>T
ENST00000445220.6:c.3001G>T	ENSP00000489407.2:p.Ala1001Ser
ENST00000262795.6:c.3949G>T	ENSP00000489147.2:p.Ala1317Ser
ENST00000664402.1:c.2491G>T	ENSP00000499475.1:p.Ala831Ser
ENST00000673971.1:c.*2947G>T	ENSP00000501192.1:n.*2947G>T
ENST00000262795.5:c.4345G>T	ENSP00000489147.1:p.Ala1449Ser
ENST00000414786.6:n.4533G>T
ENST00000445220.5:c.4327G>T	ENSP00000489407.1:p.Ala1443Ser