Canonical Allele Identifier: CA10325970

Gene: SHANK3

Linked Data

• dbSNP Id: rs758693161
• ExAC: 22:51159436 G / T
• gnomAD v2: 22-51159436-G-T
• gnomAD v4: 22-50721008-G-T
• MyVariant Identifiers: chr22:g.51159436G>T (hg19) ; chr22:g.50721008G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721008G>T , CM000684.2:g.50721008G>T	GRCh38
NC_000022.10:g.51159436G>T , CM000684.1:g.51159436G>T	GRCh37
NC_000022.9:g.49506302G>T	NCBI36
NG_008607.2:g.51654G>T
NG_070230.1:g.56792G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2776G>T	ENSP00000489147.2:p.Gly926Trp
ENST00000414786.7:n.3360G>T
ENST00000445220.7:c.1828G>T	ENSP00000489407.2:p.Gly610Trp
ENST00000664402.2:c.1318G>T	ENSP00000499475.1:p.Gly440Trp
ENST00000673971.2:c.*1774G>T	ENSP00000501192.1:n.*1774G>T
ENST00000445220.6:c.1828G>T	ENSP00000489407.2:p.Gly610Trp
ENST00000262795.6:c.2776G>T	ENSP00000489147.2:p.Gly926Trp
ENST00000664402.1:c.1318G>T	ENSP00000499475.1:p.Gly440Trp
ENST00000673971.1:c.*1774G>T	ENSP00000501192.1:n.*1774G>T
ENST00000262795.5:c.3172G>T	ENSP00000489147.1:p.Gly1058Trp
ENST00000414786.6:n.3360G>T
ENST00000445220.5:c.3154G>T	ENSP00000489407.1:p.Gly1052Trp