Canonical Allele Identifier: CA515263934

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160352G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721924G>T , CM000684.2:g.50721924G>T	GRCh38
NC_000022.10:g.51160352G>T , CM000684.1:g.51160352G>T	GRCh37
NC_000022.9:g.49507218G>T	NCBI36
NG_008607.2:g.52570G>T
NG_070230.1:g.57708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3692G>T	ENSP00000489147.2:p.Ser1231Ile
ENST00000414786.7:n.4276G>T
ENST00000445220.7:c.2744G>T	ENSP00000489407.2:p.Ser915Ile
ENST00000664402.2:c.2234G>T	ENSP00000499475.1:p.Ser745Ile
ENST00000673971.2:c.*2690G>T	ENSP00000501192.1:n.*2690G>T
ENST00000445220.6:c.2744G>T	ENSP00000489407.2:p.Ser915Ile
ENST00000262795.6:c.3692G>T	ENSP00000489147.2:p.Ser1231Ile
ENST00000664402.1:c.2234G>T	ENSP00000499475.1:p.Ser745Ile
ENST00000673971.1:c.*2690G>T	ENSP00000501192.1:n.*2690G>T
ENST00000262795.5:c.4088G>T	ENSP00000489147.1:p.Ser1363Ile
ENST00000414786.6:n.4276G>T
ENST00000445220.5:c.4070G>T	ENSP00000489407.1:p.Ser1357Ile