Canonical Allele Identifier: CA10326084

Gene: SHANK3

Linked Data

• dbSNP Id: rs771197027
• ExAC: 22:51159879 A / T
• gnomAD v2: 22-51159879-A-T
• gnomAD v3: 22-50721451-A-T
• gnomAD v4: 22-50721451-A-T
• MyVariant Identifiers: chr22:g.51159879A>T (hg19) ; chr22:g.50721451A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721451A>T , CM000684.2:g.50721451A>T	GRCh38
NC_000022.10:g.51159879A>T , CM000684.1:g.51159879A>T	GRCh37
NC_000022.9:g.49506745A>T	NCBI36
NG_008607.2:g.52097A>T
NG_070230.1:g.57235A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3219A>T	ENSP00000489147.2:p.Pro1073=
ENST00000414786.7:n.3803A>T
ENST00000445220.7:c.2271A>T	ENSP00000489407.2:p.Pro757=
ENST00000664402.2:c.1761A>T	ENSP00000499475.1:p.Pro587=
ENST00000673971.2:c.*2217A>T	ENSP00000501192.1:n.*2217A>T
ENST00000445220.6:c.2271A>T	ENSP00000489407.2:p.Pro757=
ENST00000262795.6:c.3219A>T	ENSP00000489147.2:p.Pro1073=
ENST00000664402.1:c.1761A>T	ENSP00000499475.1:p.Pro587=
ENST00000673971.1:c.*2217A>T	ENSP00000501192.1:n.*2217A>T
ENST00000262795.5:c.3615A>T	ENSP00000489147.1:p.Pro1205=
ENST00000414786.6:n.3803A>T
ENST00000445220.5:c.3597A>T	ENSP00000489407.1:p.Pro1199=