Canonical Allele Identifier: CA515254916

Gene: SHANK3

Linked Data

• dbSNP Id: rs1463252249
• gnomAD v4: 22-50697589-C-T
• COSMIC: COSM1616637
• MyVariant Identifiers: chr22:g.51136017C>T (hg19) ; chr22:g.50697589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697589C>T , CM000684.2:g.50697589C>T	GRCh38
NC_000022.10:g.51136017C>T , CM000684.1:g.51136017C>T	GRCh37
NC_000022.9:g.49482883C>T	NCBI36
NG_008607.2:g.28235C>T
NG_070230.1:g.33454C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.973C>T	ENSP00000489147.2:p.Pro325Ser
ENST00000414786.7:n.1557C>T
ENST00000445220.7:c.25C>T	ENSP00000489407.2:p.Pro9Ser
ENST00000673971.2:c.1330C>T	ENSP00000501192.1:p.Pro444Ser
ENST00000445220.6:c.25C>T	ENSP00000489407.2:p.Pro9Ser
ENST00000262795.6:c.973C>T	ENSP00000489147.2:p.Pro325Ser
ENST00000673971.1:c.1330C>T	ENSP00000501192.1:p.Pro444Ser
ENST00000673995.1:c.26C>T
ENST00000262795.5:c.1369C>T	ENSP00000489147.1:p.Pro457Ser
ENST00000414786.6:n.1557C>T
ENST00000445220.5:c.1351C>T	ENSP00000489407.1:p.Pro451Ser