Canonical Allele Identifier: CA515255133

Gene: SHANK3

Linked Data

• dbSNP Id: rs748826159
• gnomAD v2: 22-51136093-G-C
• gnomAD v4: 22-50697665-G-C
• MyVariant Identifiers: chr22:g.51136093G>C (hg19) ; chr22:g.50697665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697665G>C , CM000684.2:g.50697665G>C	GRCh38
NC_000022.10:g.51136093G>C , CM000684.1:g.51136093G>C	GRCh37
NC_000022.9:g.49482959G>C	NCBI36
NG_008607.2:g.28311G>C
NG_070230.1:g.33530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1049G>C	ENSP00000489147.2:p.Ser350Thr
ENST00000414786.7:n.1633G>C
ENST00000445220.7:c.101G>C	ENSP00000489407.2:p.Ser34Thr
ENST00000673971.2:c.1406G>C	ENSP00000501192.1:p.Ser469Thr
ENST00000445220.6:c.101G>C	ENSP00000489407.2:p.Ser34Thr
ENST00000262795.6:c.1049G>C	ENSP00000489147.2:p.Ser350Thr
ENST00000673971.1:c.1406G>C	ENSP00000501192.1:p.Ser469Thr
ENST00000673995.1:c.102G>C
ENST00000262795.5:c.1445G>C	ENSP00000489147.1:p.Ser482Thr
ENST00000414786.6:n.1633G>C
ENST00000445220.5:c.1427G>C	ENSP00000489407.1:p.Ser476Thr