Canonical Allele Identifier: CA10325521

Gene: SHANK3

Linked Data

• dbSNP Id: rs751355926
• ExAC: 22:51136048 A / T
• gnomAD v4: 22-50697620-A-T
• MyVariant Identifiers: chr22:g.51136048A>T (hg19) ; chr22:g.50697620A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697620A>T , CM000684.2:g.50697620A>T	GRCh38
NC_000022.10:g.51136048A>T , CM000684.1:g.51136048A>T	GRCh37
NC_000022.9:g.49482914A>T	NCBI36
NG_008607.2:g.28266A>T
NG_070230.1:g.33485A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1004A>T	ENSP00000489147.2:p.Tyr335Phe
ENST00000414786.7:n.1588A>T
ENST00000445220.7:c.56A>T	ENSP00000489407.2:p.Tyr19Phe
ENST00000673971.2:c.1361A>T	ENSP00000501192.1:p.Tyr454Phe
ENST00000445220.6:c.56A>T	ENSP00000489407.2:p.Tyr19Phe
ENST00000262795.6:c.1004A>T	ENSP00000489147.2:p.Tyr335Phe
ENST00000673971.1:c.1361A>T	ENSP00000501192.1:p.Tyr454Phe
ENST00000673995.1:c.57A>T
ENST00000262795.5:c.1400A>T	ENSP00000489147.1:p.Tyr467Phe
ENST00000414786.6:n.1588A>T
ENST00000445220.5:c.1382A>T	ENSP00000489407.1:p.Tyr461Phe