Canonical Allele Identifier: CA515264006

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721948-C-T
• MyVariant Identifiers: chr22:g.51160376C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721948C>T , CM000684.2:g.50721948C>T	GRCh38
NC_000022.10:g.51160376C>T , CM000684.1:g.51160376C>T	GRCh37
NC_000022.9:g.49507242C>T	NCBI36
NG_008607.2:g.52594C>T
NG_070230.1:g.57732C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3716C>T	ENSP00000489147.2:p.Thr1239Ile
ENST00000414786.7:n.4300C>T
ENST00000445220.7:c.2768C>T	ENSP00000489407.2:p.Thr923Ile
ENST00000664402.2:c.2258C>T	ENSP00000499475.1:p.Thr753Ile
ENST00000673971.2:c.*2714C>T	ENSP00000501192.1:n.*2714C>T
ENST00000445220.6:c.2768C>T	ENSP00000489407.2:p.Thr923Ile
ENST00000262795.6:c.3716C>T	ENSP00000489147.2:p.Thr1239Ile
ENST00000664402.1:c.2258C>T	ENSP00000499475.1:p.Thr753Ile
ENST00000673971.1:c.*2714C>T	ENSP00000501192.1:n.*2714C>T
ENST00000262795.5:c.4112C>T	ENSP00000489147.1:p.Thr1371Ile
ENST00000414786.6:n.4300C>T
ENST00000445220.5:c.4094C>T	ENSP00000489407.1:p.Thr1365Ile