Canonical Allele Identifier: CA515260473

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159278G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720850G>T , CM000684.2:g.50720850G>T	GRCh38
NC_000022.10:g.51159278G>T , CM000684.1:g.51159278G>T	GRCh37
NC_000022.9:g.49506144G>T	NCBI36
NG_008607.2:g.51496G>T
NG_070230.1:g.56634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2618G>T	ENSP00000489147.2:p.Gly873Val
ENST00000414786.7:n.3202G>T
ENST00000445220.7:c.1670G>T	ENSP00000489407.2:p.Gly557Val
ENST00000664402.2:c.1160G>T	ENSP00000499475.1:p.Gly387Val
ENST00000673971.2:c.*1616G>T	ENSP00000501192.1:n.*1616G>T
ENST00000445220.6:c.1670G>T	ENSP00000489407.2:p.Gly557Val
ENST00000262795.6:c.2618G>T	ENSP00000489147.2:p.Gly873Val
ENST00000664402.1:c.1160G>T	ENSP00000499475.1:p.Gly387Val
ENST00000673971.1:c.*1616G>T	ENSP00000501192.1:n.*1616G>T
ENST00000262795.5:c.3014G>T	ENSP00000489147.1:p.Gly1005Val
ENST00000414786.6:n.3202G>T
ENST00000445220.5:c.2996G>T	ENSP00000489407.1:p.Gly999Val