Canonical Allele Identifier: CA515254973

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697609-G-T
• MyVariant Identifiers: chr22:g.51136037G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697609G>T , CM000684.2:g.50697609G>T	GRCh38
NC_000022.10:g.51136037G>T , CM000684.1:g.51136037G>T	GRCh37
NC_000022.9:g.49482903G>T	NCBI36
NG_008607.2:g.28255G>T
NG_070230.1:g.33474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.993G>T	ENSP00000489147.2:p.Lys331Asn
ENST00000414786.7:n.1577G>T
ENST00000445220.7:c.45G>T	ENSP00000489407.2:p.Lys15Asn
ENST00000673971.2:c.1350G>T	ENSP00000501192.1:p.Lys450Asn
ENST00000445220.6:c.45G>T	ENSP00000489407.2:p.Lys15Asn
ENST00000262795.6:c.993G>T	ENSP00000489147.2:p.Lys331Asn
ENST00000673971.1:c.1350G>T	ENSP00000501192.1:p.Lys450Asn
ENST00000673995.1:c.46G>T
ENST00000262795.5:c.1389G>T	ENSP00000489147.1:p.Lys463Asn
ENST00000414786.6:n.1577G>T
ENST00000445220.5:c.1371G>T	ENSP00000489407.1:p.Lys457Asn