Canonical Allele Identifier: CA515260029

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720697-T-C
• MyVariant Identifiers: chr22:g.51159125T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720697T>C , CM000684.2:g.50720697T>C	GRCh38
NC_000022.10:g.51159125T>C , CM000684.1:g.51159125T>C	GRCh37
NC_000022.9:g.49505991T>C	NCBI36
NG_008607.2:g.51343T>C
NG_070230.1:g.56481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2465T>C	ENSP00000489147.2:p.Val822Ala
ENST00000414786.7:n.3049T>C
ENST00000445220.7:c.1517T>C	ENSP00000489407.2:p.Val506Ala
ENST00000664402.2:c.1007T>C	ENSP00000499475.1:p.Val336Ala
ENST00000673971.2:c.*1463T>C	ENSP00000501192.1:n.*1463T>C
ENST00000445220.6:c.1517T>C	ENSP00000489407.2:p.Val506Ala
ENST00000262795.6:c.2465T>C	ENSP00000489147.2:p.Val822Ala
ENST00000664402.1:c.1007T>C	ENSP00000499475.1:p.Val336Ala
ENST00000673971.1:c.*1463T>C	ENSP00000501192.1:n.*1463T>C
ENST00000262795.5:c.2861T>C	ENSP00000489147.1:p.Val954Ala
ENST00000414786.6:n.3049T>C
ENST00000445220.5:c.2843T>C	ENSP00000489407.1:p.Val948Ala