Canonical Allele Identifier: CA515263698

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721853-G-T
• MyVariant Identifiers: chr22:g.51160281G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721853G>T , CM000684.2:g.50721853G>T	GRCh38
NC_000022.10:g.51160281G>T , CM000684.1:g.51160281G>T	GRCh37
NC_000022.9:g.49507147G>T	NCBI36
NG_008607.2:g.52499G>T
NG_070230.1:g.57637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3621G>T	ENSP00000489147.2:p.Lys1207Asn
ENST00000414786.7:n.4205G>T
ENST00000445220.7:c.2673G>T	ENSP00000489407.2:p.Lys891Asn
ENST00000664402.2:c.2163G>T	ENSP00000499475.1:p.Lys721Asn
ENST00000673971.2:c.*2619G>T	ENSP00000501192.1:n.*2619G>T
ENST00000445220.6:c.2673G>T	ENSP00000489407.2:p.Lys891Asn
ENST00000262795.6:c.3621G>T	ENSP00000489147.2:p.Lys1207Asn
ENST00000664402.1:c.2163G>T	ENSP00000499475.1:p.Lys721Asn
ENST00000673971.1:c.*2619G>T	ENSP00000501192.1:n.*2619G>T
ENST00000262795.5:c.4017G>T	ENSP00000489147.1:p.Lys1339Asn
ENST00000414786.6:n.4205G>T
ENST00000445220.5:c.3999G>T	ENSP00000489407.1:p.Lys1333Asn