Canonical Allele Identifier: CA515255044

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697634-G-T
• MyVariant Identifiers: chr22:g.51136062G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697634G>T , CM000684.2:g.50697634G>T	GRCh38
NC_000022.10:g.51136062G>T , CM000684.1:g.51136062G>T	GRCh37
NC_000022.9:g.49482928G>T	NCBI36
NG_008607.2:g.28280G>T
NG_070230.1:g.33499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1018G>T	ENSP00000489147.2:p.Gly340Cys
ENST00000414786.7:n.1602G>T
ENST00000445220.7:c.70G>T	ENSP00000489407.2:p.Gly24Cys
ENST00000673971.2:c.1375G>T	ENSP00000501192.1:p.Gly459Cys
ENST00000445220.6:c.70G>T	ENSP00000489407.2:p.Gly24Cys
ENST00000262795.6:c.1018G>T	ENSP00000489147.2:p.Gly340Cys
ENST00000673971.1:c.1375G>T	ENSP00000501192.1:p.Gly459Cys
ENST00000673995.1:c.71G>T
ENST00000262795.5:c.1414G>T	ENSP00000489147.1:p.Gly472Cys
ENST00000414786.6:n.1602G>T
ENST00000445220.5:c.1396G>T	ENSP00000489407.1:p.Gly466Cys