Canonical Allele Identifier: CA515263985

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721942-T-C
• MyVariant Identifiers: chr22:g.51160370T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721942T>C , CM000684.2:g.50721942T>C	GRCh38
NC_000022.10:g.51160370T>C , CM000684.1:g.51160370T>C	GRCh37
NC_000022.9:g.49507236T>C	NCBI36
NG_008607.2:g.52588T>C
NG_070230.1:g.57726T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3710T>C	ENSP00000489147.2:p.Leu1237Pro
ENST00000414786.7:n.4294T>C
ENST00000445220.7:c.2762T>C	ENSP00000489407.2:p.Leu921Pro
ENST00000664402.2:c.2252T>C	ENSP00000499475.1:p.Leu751Pro
ENST00000673971.2:c.*2708T>C	ENSP00000501192.1:n.*2708T>C
ENST00000445220.6:c.2762T>C	ENSP00000489407.2:p.Leu921Pro
ENST00000262795.6:c.3710T>C	ENSP00000489147.2:p.Leu1237Pro
ENST00000664402.1:c.2252T>C	ENSP00000499475.1:p.Leu751Pro
ENST00000673971.1:c.*2708T>C	ENSP00000501192.1:n.*2708T>C
ENST00000262795.5:c.4106T>C	ENSP00000489147.1:p.Leu1369Pro
ENST00000414786.6:n.4294T>C
ENST00000445220.5:c.4088T>C	ENSP00000489407.1:p.Leu1363Pro