Canonical Allele Identifier: CA515259013

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720350-G-T
• MyVariant Identifiers: chr22:g.51158778G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720350G>T , CM000684.2:g.50720350G>T	GRCh38
NC_000022.10:g.51158778G>T , CM000684.1:g.51158778G>T	GRCh37
NC_000022.9:g.49505644G>T	NCBI36
NG_008607.2:g.50996G>T
NG_070230.1:g.56134G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2118G>T	ENSP00000489147.2:p.Ser706=
ENST00000414786.7:n.2702G>T
ENST00000445220.7:c.1170G>T	ENSP00000489407.2:p.Ser390=
ENST00000664402.2:c.660G>T	ENSP00000499475.1:p.Ser220=
ENST00000673971.2:c.*1116G>T	ENSP00000501192.1:n.*1116G>T
ENST00000445220.6:c.1170G>T	ENSP00000489407.2:p.Ser390=
ENST00000262795.6:c.2118G>T	ENSP00000489147.2:p.Ser706=
ENST00000664402.1:c.660G>T	ENSP00000499475.1:p.Ser220=
ENST00000673971.1:c.*1116G>T	ENSP00000501192.1:n.*1116G>T
ENST00000262795.5:c.2514G>T	ENSP00000489147.1:p.Ser838=
ENST00000414786.6:n.2702G>T
ENST00000445220.5:c.2496G>T	ENSP00000489407.1:p.Ser832=