Canonical Allele Identifier: CA515262954

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160019G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721591G>T , CM000684.2:g.50721591G>T	GRCh38
NC_000022.10:g.51160019G>T , CM000684.1:g.51160019G>T	GRCh37
NC_000022.9:g.49506885G>T	NCBI36
NG_008607.2:g.52237G>T
NG_070230.1:g.57375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3359G>T	ENSP00000489147.2:p.Ser1120Ile
ENST00000414786.7:n.3943G>T
ENST00000445220.7:c.2411G>T	ENSP00000489407.2:p.Ser804Ile
ENST00000664402.2:c.1901G>T	ENSP00000499475.1:p.Ser634Ile
ENST00000673971.2:c.*2357G>T	ENSP00000501192.1:n.*2357G>T
ENST00000445220.6:c.2411G>T	ENSP00000489407.2:p.Ser804Ile
ENST00000262795.6:c.3359G>T	ENSP00000489147.2:p.Ser1120Ile
ENST00000664402.1:c.1901G>T	ENSP00000499475.1:p.Ser634Ile
ENST00000673971.1:c.*2357G>T	ENSP00000501192.1:n.*2357G>T
ENST00000262795.5:c.3755G>T	ENSP00000489147.1:p.Ser1252Ile
ENST00000414786.6:n.3943G>T
ENST00000445220.5:c.3737G>T	ENSP00000489407.1:p.Ser1246Ile