Canonical Allele Identifier: CA515260795

Gene: SHANK3

Linked Data

• dbSNP Id: rs1314313678
• gnomAD v2: 22-51159394-C-T
• gnomAD v3: 22-50720966-C-T
• gnomAD v4: 22-50720966-C-T
• MyVariant Identifiers: chr22:g.51159394C>T (hg19) ; chr22:g.50720966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720966C>T , CM000684.2:g.50720966C>T	GRCh38
NC_000022.10:g.51159394C>T , CM000684.1:g.51159394C>T	GRCh37
NC_000022.9:g.49506260C>T	NCBI36
NG_008607.2:g.51612C>T
NG_070230.1:g.56750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2734C>T	ENSP00000489147.2:p.Pro912Ser
ENST00000414786.7:n.3318C>T
ENST00000445220.7:c.1786C>T	ENSP00000489407.2:p.Pro596Ser
ENST00000664402.2:c.1276C>T	ENSP00000499475.1:p.Pro426Ser
ENST00000673971.2:c.*1732C>T	ENSP00000501192.1:n.*1732C>T
ENST00000445220.6:c.1786C>T	ENSP00000489407.2:p.Pro596Ser
ENST00000262795.6:c.2734C>T	ENSP00000489147.2:p.Pro912Ser
ENST00000664402.1:c.1276C>T	ENSP00000499475.1:p.Pro426Ser
ENST00000673971.1:c.*1732C>T	ENSP00000501192.1:n.*1732C>T
ENST00000262795.5:c.3130C>T	ENSP00000489147.1:p.Pro1044Ser
ENST00000414786.6:n.3318C>T
ENST00000445220.5:c.3112C>T	ENSP00000489407.1:p.Pro1038Ser