Canonical Allele Identifier: CA515263466

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721780-G-T
• MyVariant Identifiers: chr22:g.51160208G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721780G>T , CM000684.2:g.50721780G>T	GRCh38
NC_000022.10:g.51160208G>T , CM000684.1:g.51160208G>T	GRCh37
NC_000022.9:g.49507074G>T	NCBI36
NG_008607.2:g.52426G>T
NG_070230.1:g.57564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3548G>T	ENSP00000489147.2:p.Gly1183Val
ENST00000414786.7:n.4132G>T
ENST00000445220.7:c.2600G>T	ENSP00000489407.2:p.Gly867Val
ENST00000664402.2:c.2090G>T	ENSP00000499475.1:p.Gly697Val
ENST00000673971.2:c.*2546G>T	ENSP00000501192.1:n.*2546G>T
ENST00000445220.6:c.2600G>T	ENSP00000489407.2:p.Gly867Val
ENST00000262795.6:c.3548G>T	ENSP00000489147.2:p.Gly1183Val
ENST00000664402.1:c.2090G>T	ENSP00000499475.1:p.Gly697Val
ENST00000673971.1:c.*2546G>T	ENSP00000501192.1:n.*2546G>T
ENST00000262795.5:c.3944G>T	ENSP00000489147.1:p.Gly1315Val
ENST00000414786.6:n.4132G>T
ENST00000445220.5:c.3926G>T	ENSP00000489407.1:p.Gly1309Val