Canonical Allele Identifier: CA10326147

Gene: SHANK3

Linked Data

• dbSNP Id: rs774193238
• ExAC: 22:51160064 C / T
• gnomAD v2: 22-51160064-C-T
• gnomAD v4: 22-50721636-C-T
• MyVariant Identifiers: chr22:g.51160064C>T (hg19) ; chr22:g.50721636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721636C>T , CM000684.2:g.50721636C>T	GRCh38
NC_000022.10:g.51160064C>T , CM000684.1:g.51160064C>T	GRCh37
NC_000022.9:g.49506930C>T	NCBI36
NG_008607.2:g.52282C>T
NG_070230.1:g.57420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3404C>T	ENSP00000489147.2:p.Pro1135Leu
ENST00000414786.7:n.3988C>T
ENST00000445220.7:c.2456C>T	ENSP00000489407.2:p.Pro819Leu
ENST00000664402.2:c.1946C>T	ENSP00000499475.1:p.Pro649Leu
ENST00000673971.2:c.*2402C>T	ENSP00000501192.1:n.*2402C>T
ENST00000445220.6:c.2456C>T	ENSP00000489407.2:p.Pro819Leu
ENST00000262795.6:c.3404C>T	ENSP00000489147.2:p.Pro1135Leu
ENST00000664402.1:c.1946C>T	ENSP00000499475.1:p.Pro649Leu
ENST00000673971.1:c.*2402C>T	ENSP00000501192.1:n.*2402C>T
ENST00000262795.5:c.3800C>T	ENSP00000489147.1:p.Pro1267Leu
ENST00000414786.6:n.3988C>T
ENST00000445220.5:c.3782C>T	ENSP00000489407.1:p.Pro1261Leu