Canonical Allele Identifier: CA515261225

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721125-A-G
• MyVariant Identifiers: chr22:g.51159553A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721125A>G , CM000684.2:g.50721125A>G	GRCh38
NC_000022.10:g.51159553A>G , CM000684.1:g.51159553A>G	GRCh37
NC_000022.9:g.49506419A>G	NCBI36
NG_008607.2:g.51771A>G
NG_070230.1:g.56909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2893A>G	ENSP00000489147.2:p.Thr965Ala
ENST00000414786.7:n.3477A>G
ENST00000445220.7:c.1945A>G	ENSP00000489407.2:p.Thr649Ala
ENST00000664402.2:c.1435A>G	ENSP00000499475.1:p.Thr479Ala
ENST00000673971.2:c.*1891A>G	ENSP00000501192.1:n.*1891A>G
ENST00000445220.6:c.1945A>G	ENSP00000489407.2:p.Thr649Ala
ENST00000262795.6:c.2893A>G	ENSP00000489147.2:p.Thr965Ala
ENST00000664402.1:c.1435A>G	ENSP00000499475.1:p.Thr479Ala
ENST00000673971.1:c.*1891A>G	ENSP00000501192.1:n.*1891A>G
ENST00000262795.5:c.3289A>G	ENSP00000489147.1:p.Thr1097Ala
ENST00000414786.6:n.3477A>G
ENST00000445220.5:c.3271A>G	ENSP00000489407.1:p.Thr1091Ala