Canonical Allele Identifier: CA515259267

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720438-G-T
• MyVariant Identifiers: chr22:g.51158866G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720438G>T , CM000684.2:g.50720438G>T	GRCh38
NC_000022.10:g.51158866G>T , CM000684.1:g.51158866G>T	GRCh37
NC_000022.9:g.49505732G>T	NCBI36
NG_008607.2:g.51084G>T
NG_070230.1:g.56222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2206G>T	ENSP00000489147.2:p.Gly736Cys
ENST00000414786.7:n.2790G>T
ENST00000445220.7:c.1258G>T	ENSP00000489407.2:p.Gly420Cys
ENST00000664402.2:c.748G>T	ENSP00000499475.1:p.Gly250Cys
ENST00000673971.2:c.*1204G>T	ENSP00000501192.1:n.*1204G>T
ENST00000445220.6:c.1258G>T	ENSP00000489407.2:p.Gly420Cys
ENST00000262795.6:c.2206G>T	ENSP00000489147.2:p.Gly736Cys
ENST00000664402.1:c.748G>T	ENSP00000499475.1:p.Gly250Cys
ENST00000673971.1:c.*1204G>T	ENSP00000501192.1:n.*1204G>T
ENST00000262795.5:c.2602G>T	ENSP00000489147.1:p.Gly868Cys
ENST00000414786.6:n.2790G>T
ENST00000445220.5:c.2584G>T	ENSP00000489407.1:p.Gly862Cys