Canonical Allele Identifier: CA515259827

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159058A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720630A>C , CM000684.2:g.50720630A>C	GRCh38
NC_000022.10:g.51159058A>C , CM000684.1:g.51159058A>C	GRCh37
NC_000022.9:g.49505924A>C	NCBI36
NG_008607.2:g.51276A>C
NG_070230.1:g.56414A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2398A>C	ENSP00000489147.2:p.Asn800His
ENST00000414786.7:n.2982A>C
ENST00000445220.7:c.1450A>C	ENSP00000489407.2:p.Asn484His
ENST00000664402.2:c.940A>C	ENSP00000499475.1:p.Asn314His
ENST00000673971.2:c.*1396A>C	ENSP00000501192.1:n.*1396A>C
ENST00000445220.6:c.1450A>C	ENSP00000489407.2:p.Asn484His
ENST00000262795.6:c.2398A>C	ENSP00000489147.2:p.Asn800His
ENST00000664402.1:c.940A>C	ENSP00000499475.1:p.Asn314His
ENST00000673971.1:c.*1396A>C	ENSP00000501192.1:n.*1396A>C
ENST00000262795.5:c.2794A>C	ENSP00000489147.1:p.Asn932His
ENST00000414786.6:n.2982A>C
ENST00000445220.5:c.2776A>C	ENSP00000489407.1:p.Asn926His