Canonical Allele Identifier: CA515255175

Gene: SHANK3

Linked Data

• dbSNP Id: rs1215429794
• gnomAD v2: 22-51136107-G-T
• gnomAD v3: 22-50697679-G-T
• gnomAD v4: 22-50697679-G-T
• MyVariant Identifiers: chr22:g.51136107G>T (hg19) ; chr22:g.50697679G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697679G>T , CM000684.2:g.50697679G>T	GRCh38
NC_000022.10:g.51136107G>T , CM000684.1:g.51136107G>T	GRCh37
NC_000022.9:g.49482973G>T	NCBI36
NG_008607.2:g.28325G>T
NG_070230.1:g.33544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1063G>T	ENSP00000489147.2:p.Gly355Cys
ENST00000414786.7:n.1647G>T
ENST00000445220.7:c.115G>T	ENSP00000489407.2:p.Gly39Cys
ENST00000673971.2:c.1420G>T	ENSP00000501192.1:p.Gly474Cys
ENST00000445220.6:c.115G>T	ENSP00000489407.2:p.Gly39Cys
ENST00000262795.6:c.1063G>T	ENSP00000489147.2:p.Gly355Cys
ENST00000673971.1:c.1420G>T	ENSP00000501192.1:p.Gly474Cys
ENST00000673995.1:c.116G>T
ENST00000262795.5:c.1459G>T	ENSP00000489147.1:p.Gly487Cys
ENST00000414786.6:n.1647G>T
ENST00000445220.5:c.1441G>T	ENSP00000489407.1:p.Gly481Cys