Canonical Allele Identifier: CA515255191

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697685-A-C
• MyVariant Identifiers: chr22:g.51136113A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697685A>C , CM000684.2:g.50697685A>C	GRCh38
NC_000022.10:g.51136113A>C , CM000684.1:g.51136113A>C	GRCh37
NC_000022.9:g.49482979A>C	NCBI36
NG_008607.2:g.28331A>C
NG_070230.1:g.33550A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1069A>C	ENSP00000489147.2:p.Ile357Leu
ENST00000414786.7:n.1653A>C
ENST00000445220.7:c.121A>C	ENSP00000489407.2:p.Ile41Leu
ENST00000673971.2:c.1426A>C	ENSP00000501192.1:p.Ile476Leu
ENST00000445220.6:c.121A>C	ENSP00000489407.2:p.Ile41Leu
ENST00000262795.6:c.1069A>C	ENSP00000489147.2:p.Ile357Leu
ENST00000673971.1:c.1426A>C	ENSP00000501192.1:p.Ile476Leu
ENST00000673995.1:c.122A>C
ENST00000262795.5:c.1465A>C	ENSP00000489147.1:p.Ile489Leu
ENST00000414786.6:n.1653A>C
ENST00000445220.5:c.1447A>C	ENSP00000489407.1:p.Ile483Leu