Canonical Allele Identifier: CA515252475

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50678594A>T , CM000684.2:g.50678594A>T	GRCh38
NC_000022.10:g.51117022A>T , CM000684.1:g.51117022A>T	GRCh37
NC_000022.9:g.49463888A>T	NCBI36
NG_008607.2:g.8953A>T
NG_070230.1:g.14359A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372044.2:c.574A>T MANE Select	NP_001358973.1:p.Lys192Ter
NM_001372044.1:c.574A>T	NP_001358973.1:p.Lys192Ter
NM_033517.1:c.349A>T	NP_277052.1:p.Lys117Ter
ENST00000262795.5:c.349A>T	ENSP00000489147.1:p.Lys117Ter
ENST00000262795.6:c.-9A>T	ENSP00000489147.2:n.-9A>T
ENST00000262795.7:c.-9A>T	ENSP00000489147.2:n.-9A>T
ENST00000414786.6:n.576A>T
ENST00000414786.7:n.576A>T
ENST00000445220.5:c.349A>T	ENSP00000489407.1:p.Lys117Ter
ENST00000673971.1:c.349A>T	ENSP00000501192.1:p.Lys117Ter
ENST00000673971.2:c.349A>T	ENSP00000501192.1:p.Lys117Ter
ENST00000691768.1:n.312A>T
ENST00000692848.1:c.349A>T	ENSP00000510794.1:p.Lys117Ter