Canonical Allele Identifier: CA515261416

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721194-T-A
• MyVariant Identifiers: chr22:g.51159622T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721194T>A , CM000684.2:g.50721194T>A	GRCh38
NC_000022.10:g.51159622T>A , CM000684.1:g.51159622T>A	GRCh37
NC_000022.9:g.49506488T>A	NCBI36
NG_008607.2:g.51840T>A
NG_070230.1:g.56978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2962T>A	ENSP00000489147.2:p.Ser988Thr
ENST00000414786.7:n.3546T>A
ENST00000445220.7:c.2014T>A	ENSP00000489407.2:p.Ser672Thr
ENST00000664402.2:c.1504T>A	ENSP00000499475.1:p.Ser502Thr
ENST00000673971.2:c.*1960T>A	ENSP00000501192.1:n.*1960T>A
ENST00000445220.6:c.2014T>A	ENSP00000489407.2:p.Ser672Thr
ENST00000262795.6:c.2962T>A	ENSP00000489147.2:p.Ser988Thr
ENST00000664402.1:c.1504T>A	ENSP00000499475.1:p.Ser502Thr
ENST00000673971.1:c.*1960T>A	ENSP00000501192.1:n.*1960T>A
ENST00000262795.5:c.3358T>A	ENSP00000489147.1:p.Ser1120Thr
ENST00000414786.6:n.3546T>A
ENST00000445220.5:c.3340T>A	ENSP00000489407.1:p.Ser1114Thr