Canonical Allele Identifier: CA515260773

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720958-C-T
• MyVariant Identifiers: chr22:g.51159386C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720958C>T , CM000684.2:g.50720958C>T	GRCh38
NC_000022.10:g.51159386C>T , CM000684.1:g.51159386C>T	GRCh37
NC_000022.9:g.49506252C>T	NCBI36
NG_008607.2:g.51604C>T
NG_070230.1:g.56742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2726C>T	ENSP00000489147.2:p.Ala909Val
ENST00000414786.7:n.3310C>T
ENST00000445220.7:c.1778C>T	ENSP00000489407.2:p.Ala593Val
ENST00000664402.2:c.1268C>T	ENSP00000499475.1:p.Ala423Val
ENST00000673971.2:c.*1724C>T	ENSP00000501192.1:n.*1724C>T
ENST00000445220.6:c.1778C>T	ENSP00000489407.2:p.Ala593Val
ENST00000262795.6:c.2726C>T	ENSP00000489147.2:p.Ala909Val
ENST00000664402.1:c.1268C>T	ENSP00000499475.1:p.Ala423Val
ENST00000673971.1:c.*1724C>T	ENSP00000501192.1:n.*1724C>T
ENST00000262795.5:c.3122C>T	ENSP00000489147.1:p.Ala1041Val
ENST00000414786.6:n.3310C>T
ENST00000445220.5:c.3104C>T	ENSP00000489407.1:p.Ala1035Val