Canonical Allele Identifier: CA515263094

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721648-G-C
• MyVariant Identifiers: chr22:g.51160076G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721648G>C , CM000684.2:g.50721648G>C	GRCh38
NC_000022.10:g.51160076G>C , CM000684.1:g.51160076G>C	GRCh37
NC_000022.9:g.49506942G>C	NCBI36
NG_008607.2:g.52294G>C
NG_070230.1:g.57432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3416G>C	ENSP00000489147.2:p.Ser1139Thr
ENST00000414786.7:n.4000G>C
ENST00000445220.7:c.2468G>C	ENSP00000489407.2:p.Ser823Thr
ENST00000664402.2:c.1958G>C	ENSP00000499475.1:p.Ser653Thr
ENST00000673971.2:c.*2414G>C	ENSP00000501192.1:n.*2414G>C
ENST00000445220.6:c.2468G>C	ENSP00000489407.2:p.Ser823Thr
ENST00000262795.6:c.3416G>C	ENSP00000489147.2:p.Ser1139Thr
ENST00000664402.1:c.1958G>C	ENSP00000499475.1:p.Ser653Thr
ENST00000673971.1:c.*2414G>C	ENSP00000501192.1:n.*2414G>C
ENST00000262795.5:c.3812G>C	ENSP00000489147.1:p.Ser1271Thr
ENST00000414786.6:n.4000G>C
ENST00000445220.5:c.3794G>C	ENSP00000489407.1:p.Ser1265Thr