Canonical Allele Identifier: CA10326009

Gene: SHANK3

Linked Data

• dbSNP Id: rs752933975
• ExAC: 22:51159620 C / T
• gnomAD v2: 22-51159620-C-T
• gnomAD v4: 22-50721192-C-T
• MyVariant Identifiers: chr22:g.51159620C>T (hg19) ; chr22:g.50721192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721192C>T , CM000684.2:g.50721192C>T	GRCh38
NC_000022.10:g.51159620C>T , CM000684.1:g.51159620C>T	GRCh37
NC_000022.9:g.49506486C>T	NCBI36
NG_008607.2:g.51838C>T
NG_070230.1:g.56976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2960C>T	ENSP00000489147.2:p.Ala987Val
ENST00000414786.7:n.3544C>T
ENST00000445220.7:c.2012C>T	ENSP00000489407.2:p.Ala671Val
ENST00000664402.2:c.1502C>T	ENSP00000499475.1:p.Ala501Val
ENST00000673971.2:c.*1958C>T	ENSP00000501192.1:n.*1958C>T
ENST00000445220.6:c.2012C>T	ENSP00000489407.2:p.Ala671Val
ENST00000262795.6:c.2960C>T	ENSP00000489147.2:p.Ala987Val
ENST00000664402.1:c.1502C>T	ENSP00000499475.1:p.Ala501Val
ENST00000673971.1:c.*1958C>T	ENSP00000501192.1:n.*1958C>T
ENST00000262795.5:c.3356C>T	ENSP00000489147.1:p.Ala1119Val
ENST00000414786.6:n.3544C>T
ENST00000445220.5:c.3338C>T	ENSP00000489407.1:p.Ala1113Val