Canonical Allele Identifier: CA515254988

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697614-A-C
• gnomAD v4: 22-50697614-A-C
• MyVariant Identifiers: chr22:g.51136042A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697614A>C , CM000684.2:g.50697614A>C	GRCh38
NC_000022.10:g.51136042A>C , CM000684.1:g.51136042A>C	GRCh37
NC_000022.9:g.49482908A>C	NCBI36
NG_008607.2:g.28260A>C
NG_070230.1:g.33479A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.998A>C	ENSP00000489147.2:p.Lys333Thr
ENST00000414786.7:n.1582A>C
ENST00000445220.7:c.50A>C	ENSP00000489407.2:p.Lys17Thr
ENST00000673971.2:c.1355A>C	ENSP00000501192.1:p.Lys452Thr
ENST00000445220.6:c.50A>C	ENSP00000489407.2:p.Lys17Thr
ENST00000262795.6:c.998A>C	ENSP00000489147.2:p.Lys333Thr
ENST00000673971.1:c.1355A>C	ENSP00000501192.1:p.Lys452Thr
ENST00000673995.1:c.51A>C
ENST00000262795.5:c.1394A>C	ENSP00000489147.1:p.Lys465Thr
ENST00000414786.6:n.1582A>C
ENST00000445220.5:c.1376A>C	ENSP00000489407.1:p.Lys459Thr