Canonical Allele Identifier: CA515261651

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721282-A-C
• MyVariant Identifiers: chr22:g.51159710A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721282A>C , CM000684.2:g.50721282A>C	GRCh38
NC_000022.10:g.51159710A>C , CM000684.1:g.51159710A>C	GRCh37
NC_000022.9:g.49506576A>C	NCBI36
NG_008607.2:g.51928A>C
NG_070230.1:g.57066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3050A>C	ENSP00000489147.2:p.Asp1017Ala
ENST00000414786.7:n.3634A>C
ENST00000445220.7:c.2102A>C	ENSP00000489407.2:p.Asp701Ala
ENST00000664402.2:c.1592A>C	ENSP00000499475.1:p.Asp531Ala
ENST00000673971.2:c.*2048A>C	ENSP00000501192.1:n.*2048A>C
ENST00000445220.6:c.2102A>C	ENSP00000489407.2:p.Asp701Ala
ENST00000262795.6:c.3050A>C	ENSP00000489147.2:p.Asp1017Ala
ENST00000664402.1:c.1592A>C	ENSP00000499475.1:p.Asp531Ala
ENST00000673971.1:c.*2048A>C	ENSP00000501192.1:n.*2048A>C
ENST00000262795.5:c.3446A>C	ENSP00000489147.1:p.Asp1149Ala
ENST00000414786.6:n.3634A>C
ENST00000445220.5:c.3428A>C	ENSP00000489407.1:p.Asp1143Ala