Canonical Allele Identifier: CA515262679

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721506-G-T
• MyVariant Identifiers: chr22:g.51159934G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721506G>T , CM000684.2:g.50721506G>T	GRCh38
NC_000022.10:g.51159934G>T , CM000684.1:g.51159934G>T	GRCh37
NC_000022.9:g.49506800G>T	NCBI36
NG_008607.2:g.52152G>T
NG_070230.1:g.57290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3274G>T	ENSP00000489147.2:p.Gly1092Trp
ENST00000414786.7:n.3858G>T
ENST00000445220.7:c.2326G>T	ENSP00000489407.2:p.Gly776Trp
ENST00000664402.2:c.1816G>T	ENSP00000499475.1:p.Gly606Trp
ENST00000673971.2:c.*2272G>T	ENSP00000501192.1:n.*2272G>T
ENST00000445220.6:c.2326G>T	ENSP00000489407.2:p.Gly776Trp
ENST00000262795.6:c.3274G>T	ENSP00000489147.2:p.Gly1092Trp
ENST00000664402.1:c.1816G>T	ENSP00000499475.1:p.Gly606Trp
ENST00000673971.1:c.*2272G>T	ENSP00000501192.1:n.*2272G>T
ENST00000262795.5:c.3670G>T	ENSP00000489147.1:p.Gly1224Trp
ENST00000414786.6:n.3858G>T
ENST00000445220.5:c.3652G>T	ENSP00000489407.1:p.Gly1218Trp