Canonical Allele Identifier: CA515255030

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136057T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697629T>G , CM000684.2:g.50697629T>G	GRCh38
NC_000022.10:g.51136057T>G , CM000684.1:g.51136057T>G	GRCh37
NC_000022.9:g.49482923T>G	NCBI36
NG_008607.2:g.28275T>G
NG_070230.1:g.33494T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1013T>G	ENSP00000489147.2:p.Val338Gly
ENST00000414786.7:n.1597T>G
ENST00000445220.7:c.65T>G	ENSP00000489407.2:p.Val22Gly
ENST00000673971.2:c.1370T>G	ENSP00000501192.1:p.Val457Gly
ENST00000445220.6:c.65T>G	ENSP00000489407.2:p.Val22Gly
ENST00000262795.6:c.1013T>G	ENSP00000489147.2:p.Val338Gly
ENST00000673971.1:c.1370T>G	ENSP00000501192.1:p.Val457Gly
ENST00000673995.1:c.66T>G
ENST00000262795.5:c.1409T>G	ENSP00000489147.1:p.Val470Gly
ENST00000414786.6:n.1597T>G
ENST00000445220.5:c.1391T>G	ENSP00000489407.1:p.Val464Gly