Canonical Allele Identifier: CA10326056

Gene: SHANK3

Linked Data

• dbSNP Id: rs377027190
• ExAC: 22:51159780 T / C
• gnomAD v2: 22-51159780-T-C
• gnomAD v3: 22-50721352-T-C
• gnomAD v4: 22-50721352-T-C
• MyVariant Identifiers: chr22:g.51159780T>C (hg19) ; chr22:g.50721352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721352T>C , CM000684.2:g.50721352T>C	GRCh38
NC_000022.10:g.51159780T>C , CM000684.1:g.51159780T>C	GRCh37
NC_000022.9:g.49506646T>C	NCBI36
NG_008607.2:g.51998T>C
NG_070230.1:g.57136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3120T>C	ENSP00000489147.2:p.Ala1040=
ENST00000414786.7:n.3704T>C
ENST00000445220.7:c.2172T>C	ENSP00000489407.2:p.Ala724=
ENST00000664402.2:c.1662T>C	ENSP00000499475.1:p.Ala554=
ENST00000673971.2:c.*2118T>C	ENSP00000501192.1:n.*2118T>C
ENST00000445220.6:c.2172T>C	ENSP00000489407.2:p.Ala724=
ENST00000262795.6:c.3120T>C	ENSP00000489147.2:p.Ala1040=
ENST00000664402.1:c.1662T>C	ENSP00000499475.1:p.Ala554=
ENST00000673971.1:c.*2118T>C	ENSP00000501192.1:n.*2118T>C
ENST00000262795.5:c.3516T>C	ENSP00000489147.1:p.Ala1172=
ENST00000414786.6:n.3704T>C
ENST00000445220.5:c.3498T>C	ENSP00000489407.1:p.Ala1166=