Canonical Allele Identifier: CA10326233

Gene: SHANK3

Linked Data

• dbSNP Id: rs546077287
• ExAC: 22:51160523 C / T
• gnomAD v2: 22-51160523-C-T
• gnomAD v3: 22-50722095-C-T
• gnomAD v4: 22-50722095-C-T
• MyVariant Identifiers: chr22:g.51160523C>T (hg19) ; chr22:g.50722095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722095C>T , CM000684.2:g.50722095C>T	GRCh38
NC_000022.10:g.51160523C>T , CM000684.1:g.51160523C>T	GRCh37
NC_000022.9:g.49507389C>T	NCBI36
NG_008607.2:g.52741C>T
NG_070230.1:g.57879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3863C>T	ENSP00000489147.2:p.Pro1288Leu
ENST00000414786.7:n.4447C>T
ENST00000445220.7:c.2915C>T	ENSP00000489407.2:p.Pro972Leu
ENST00000664402.2:c.2405C>T	ENSP00000499475.1:p.Pro802Leu
ENST00000673971.2:c.*2861C>T	ENSP00000501192.1:n.*2861C>T
ENST00000445220.6:c.2915C>T	ENSP00000489407.2:p.Pro972Leu
ENST00000262795.6:c.3863C>T	ENSP00000489147.2:p.Pro1288Leu
ENST00000664402.1:c.2405C>T	ENSP00000499475.1:p.Pro802Leu
ENST00000673971.1:c.*2861C>T	ENSP00000501192.1:n.*2861C>T
ENST00000262795.5:c.4259C>T	ENSP00000489147.1:p.Pro1420Leu
ENST00000414786.6:n.4447C>T
ENST00000445220.5:c.4241C>T	ENSP00000489407.1:p.Pro1414Leu