Canonical Allele Identifier: CA515260632

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720907-G-C
• MyVariant Identifiers: chr22:g.51159335G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720907G>C , CM000684.2:g.50720907G>C	GRCh38
NC_000022.10:g.51159335G>C , CM000684.1:g.51159335G>C	GRCh37
NC_000022.9:g.49506201G>C	NCBI36
NG_008607.2:g.51553G>C
NG_070230.1:g.56691G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2675G>C	ENSP00000489147.2:p.Arg892Pro
ENST00000414786.7:n.3259G>C
ENST00000445220.7:c.1727G>C	ENSP00000489407.2:p.Arg576Pro
ENST00000664402.2:c.1217G>C	ENSP00000499475.1:p.Arg406Pro
ENST00000673971.2:c.*1673G>C	ENSP00000501192.1:n.*1673G>C
ENST00000445220.6:c.1727G>C	ENSP00000489407.2:p.Arg576Pro
ENST00000262795.6:c.2675G>C	ENSP00000489147.2:p.Arg892Pro
ENST00000664402.1:c.1217G>C	ENSP00000499475.1:p.Arg406Pro
ENST00000673971.1:c.*1673G>C	ENSP00000501192.1:n.*1673G>C
ENST00000262795.5:c.3071G>C	ENSP00000489147.1:p.Arg1024Pro
ENST00000414786.6:n.3259G>C
ENST00000445220.5:c.3053G>C	ENSP00000489407.1:p.Arg1018Pro