Canonical Allele Identifier: CA515260705

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720934-C-T
• MyVariant Identifiers: chr22:g.51159362C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720934C>T , CM000684.2:g.50720934C>T	GRCh38
NC_000022.10:g.51159362C>T , CM000684.1:g.51159362C>T	GRCh37
NC_000022.9:g.49506228C>T	NCBI36
NG_008607.2:g.51580C>T
NG_070230.1:g.56718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2702C>T	ENSP00000489147.2:p.Ala901Val
ENST00000414786.7:n.3286C>T
ENST00000445220.7:c.1754C>T	ENSP00000489407.2:p.Ala585Val
ENST00000664402.2:c.1244C>T	ENSP00000499475.1:p.Ala415Val
ENST00000673971.2:c.*1700C>T	ENSP00000501192.1:n.*1700C>T
ENST00000445220.6:c.1754C>T	ENSP00000489407.2:p.Ala585Val
ENST00000262795.6:c.2702C>T	ENSP00000489147.2:p.Ala901Val
ENST00000664402.1:c.1244C>T	ENSP00000499475.1:p.Ala415Val
ENST00000673971.1:c.*1700C>T	ENSP00000501192.1:n.*1700C>T
ENST00000262795.5:c.3098C>T	ENSP00000489147.1:p.Ala1033Val
ENST00000414786.6:n.3286C>T
ENST00000445220.5:c.3080C>T	ENSP00000489407.1:p.Ala1027Val