Canonical Allele Identifier: CA515255240

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697701-G-T
• MyVariant Identifiers: chr22:g.51136129G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697701G>T , CM000684.2:g.50697701G>T	GRCh38
NC_000022.10:g.51136129G>T , CM000684.1:g.51136129G>T	GRCh37
NC_000022.9:g.49482995G>T	NCBI36
NG_008607.2:g.28347G>T
NG_070230.1:g.33566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1085G>T	ENSP00000489147.2:p.Gly362Val
ENST00000414786.7:n.1669G>T
ENST00000445220.7:c.137G>T	ENSP00000489407.2:p.Gly46Val
ENST00000673971.2:c.1442G>T	ENSP00000501192.1:p.Gly481Val
ENST00000445220.6:c.137G>T	ENSP00000489407.2:p.Gly46Val
ENST00000262795.6:c.1085G>T	ENSP00000489147.2:p.Gly362Val
ENST00000673971.1:c.1442G>T	ENSP00000501192.1:p.Gly481Val
ENST00000673995.1:c.138G>T
ENST00000262795.5:c.1481G>T	ENSP00000489147.1:p.Gly494Val
ENST00000414786.6:n.1669G>T
ENST00000445220.5:c.1463G>T	ENSP00000489407.1:p.Gly488Val