Canonical Allele Identifier: CA515263574

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721812-G-T
• MyVariant Identifiers: chr22:g.51160240G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721812G>T , CM000684.2:g.50721812G>T	GRCh38
NC_000022.10:g.51160240G>T , CM000684.1:g.51160240G>T	GRCh37
NC_000022.9:g.49507106G>T	NCBI36
NG_008607.2:g.52458G>T
NG_070230.1:g.57596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3580G>T	ENSP00000489147.2:p.Gly1194Cys
ENST00000414786.7:n.4164G>T
ENST00000445220.7:c.2632G>T	ENSP00000489407.2:p.Gly878Cys
ENST00000664402.2:c.2122G>T	ENSP00000499475.1:p.Gly708Cys
ENST00000673971.2:c.*2578G>T	ENSP00000501192.1:n.*2578G>T
ENST00000445220.6:c.2632G>T	ENSP00000489407.2:p.Gly878Cys
ENST00000262795.6:c.3580G>T	ENSP00000489147.2:p.Gly1194Cys
ENST00000664402.1:c.2122G>T	ENSP00000499475.1:p.Gly708Cys
ENST00000673971.1:c.*2578G>T	ENSP00000501192.1:n.*2578G>T
ENST00000262795.5:c.3976G>T	ENSP00000489147.1:p.Gly1326Cys
ENST00000414786.6:n.4164G>T
ENST00000445220.5:c.3958G>T	ENSP00000489407.1:p.Gly1320Cys