Canonical Allele Identifier: CA515264499

Gene: SHANK3

Linked Data

• dbSNP Id: rs1379431741
• gnomAD v2: 22-51160552-G-T
• MyVariant Identifiers: chr22:g.51160552G>T (hg19) ; chr22:g.50722124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722124G>T , CM000684.2:g.50722124G>T	GRCh38
NC_000022.10:g.51160552G>T , CM000684.1:g.51160552G>T	GRCh37
NC_000022.9:g.49507418G>T	NCBI36
NG_008607.2:g.52770G>T
NG_070230.1:g.57908G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3892G>T	ENSP00000489147.2:p.Asp1298Tyr
ENST00000414786.7:n.4476G>T
ENST00000445220.7:c.2944G>T	ENSP00000489407.2:p.Asp982Tyr
ENST00000664402.2:c.2434G>T	ENSP00000499475.1:p.Asp812Tyr
ENST00000673971.2:c.*2890G>T	ENSP00000501192.1:n.*2890G>T
ENST00000445220.6:c.2944G>T	ENSP00000489407.2:p.Asp982Tyr
ENST00000262795.6:c.3892G>T	ENSP00000489147.2:p.Asp1298Tyr
ENST00000664402.1:c.2434G>T	ENSP00000499475.1:p.Asp812Tyr
ENST00000673971.1:c.*2890G>T	ENSP00000501192.1:n.*2890G>T
ENST00000262795.5:c.4288G>T	ENSP00000489147.1:p.Asp1430Tyr
ENST00000414786.6:n.4476G>T
ENST00000445220.5:c.4270G>T	ENSP00000489407.1:p.Asp1424Tyr