Canonical Allele Identifier: CA515263510

Gene: SHANK3

Linked Data

• dbSNP Id: rs1279964709
• gnomAD v2: 22-51160222-A-T
• MyVariant Identifiers: chr22:g.51160222A>T (hg19) ; chr22:g.50721794A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721794A>T , CM000684.2:g.50721794A>T	GRCh38
NC_000022.10:g.51160222A>T , CM000684.1:g.51160222A>T	GRCh37
NC_000022.9:g.49507088A>T	NCBI36
NG_008607.2:g.52440A>T
NG_070230.1:g.57578A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3562A>T	ENSP00000489147.2:p.Thr1188Ser
ENST00000414786.7:n.4146A>T
ENST00000445220.7:c.2614A>T	ENSP00000489407.2:p.Thr872Ser
ENST00000664402.2:c.2104A>T	ENSP00000499475.1:p.Thr702Ser
ENST00000673971.2:c.*2560A>T	ENSP00000501192.1:n.*2560A>T
ENST00000445220.6:c.2614A>T	ENSP00000489407.2:p.Thr872Ser
ENST00000262795.6:c.3562A>T	ENSP00000489147.2:p.Thr1188Ser
ENST00000664402.1:c.2104A>T	ENSP00000499475.1:p.Thr702Ser
ENST00000673971.1:c.*2560A>T	ENSP00000501192.1:n.*2560A>T
ENST00000262795.5:c.3958A>T	ENSP00000489147.1:p.Thr1320Ser
ENST00000414786.6:n.4146A>T
ENST00000445220.5:c.3940A>T	ENSP00000489407.1:p.Thr1314Ser