Canonical Allele Identifier: CA325554241

Gene: SHANK3

Linked Data

• dbSNP Id: rs967387502
• gnomAD v3: 22-50697994-T-C
• gnomAD v4: 22-50697994-T-C
• MyVariant Identifiers: chr22:g.51136422T>C (hg19) ; chr22:g.50697994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697994T>C , CM000684.2:g.50697994T>C	GRCh38
NC_000022.10:g.51136422T>C , CM000684.1:g.51136422T>C	GRCh37
NC_000022.9:g.49483288T>C	NCBI36
NG_008607.2:g.28640T>C
NG_070230.1:g.33858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+279T>C	ENSP00000489147.2:n.1099+279T>C
ENST00000414786.7:n.1683+279T>C
ENST00000445220.7:c.151+279T>C	ENSP00000489407.2:n.151+279T>C
ENST00000673971.2:c.1456+279T>C	ENSP00000501192.1:n.1456+279T>C
ENST00000445220.6:c.151+279T>C	ENSP00000489407.2:n.151+279T>C
ENST00000262795.6:c.1099+279T>C	ENSP00000489147.2:n.1099+279T>C
ENST00000673971.1:c.1456+279T>C	ENSP00000501192.1:n.1456+279T>C
ENST00000673995.1:c.153-150T>C
ENST00000262795.5:c.1495+279T>C	ENSP00000489147.1:n.1495+279T>C
ENST00000414786.6:n.1683+279T>C
ENST00000445220.5:c.1477+279T>C	ENSP00000489407.1:n.1477+279T>C