Canonical Allele Identifier: CA515254547

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50679383C>A , CM000684.2:g.50679383C>A	GRCh38
NC_000022.10:g.51117811C>A , CM000684.1:g.51117811C>A	GRCh37
NC_000022.9:g.49464677C>A	NCBI36
NG_008607.2:g.9742C>A
NG_070230.1:g.15148C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001372044.2:c.1065C>A MANE Select	NP_001358973.1:p.Asn355Lys
NM_001372044.1:c.1065C>A	NP_001358973.1:p.Asn355Lys
NM_033517.1:c.840C>A	NP_277052.1:p.Asn280Lys
ENST00000262795.5:c.840C>A	ENSP00000489147.1:p.Asn280Lys
ENST00000262795.6:c.483C>A	ENSP00000489147.2:p.Asn161Lys
ENST00000262795.7:c.483C>A	ENSP00000489147.2:p.Asn161Lys
ENST00000414786.6:n.1067C>A
ENST00000414786.7:n.1067C>A
ENST00000445220.5:c.840C>A	ENSP00000489407.1:p.Asn280Lys
ENST00000673971.1:c.840C>A	ENSP00000501192.1:p.Asn280Lys
ENST00000673971.2:c.840C>A	ENSP00000501192.1:p.Asn280Lys
ENST00000691768.1:n.803C>A
ENST00000692848.1:c.840C>A	ENSP00000510794.1:p.Asn280Lys