Canonical Allele Identifier: CA515263047

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160057G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721629G>T , CM000684.2:g.50721629G>T	GRCh38
NC_000022.10:g.51160057G>T , CM000684.1:g.51160057G>T	GRCh37
NC_000022.9:g.49506923G>T	NCBI36
NG_008607.2:g.52275G>T
NG_070230.1:g.57413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3397G>T	ENSP00000489147.2:p.Ala1133Ser
ENST00000414786.7:n.3981G>T
ENST00000445220.7:c.2449G>T	ENSP00000489407.2:p.Ala817Ser
ENST00000664402.2:c.1939G>T	ENSP00000499475.1:p.Ala647Ser
ENST00000673971.2:c.*2395G>T	ENSP00000501192.1:n.*2395G>T
ENST00000445220.6:c.2449G>T	ENSP00000489407.2:p.Ala817Ser
ENST00000262795.6:c.3397G>T	ENSP00000489147.2:p.Ala1133Ser
ENST00000664402.1:c.1939G>T	ENSP00000499475.1:p.Ala647Ser
ENST00000673971.1:c.*2395G>T	ENSP00000501192.1:n.*2395G>T
ENST00000262795.5:c.3793G>T	ENSP00000489147.1:p.Ala1265Ser
ENST00000414786.6:n.3981G>T
ENST00000445220.5:c.3775G>T	ENSP00000489407.1:p.Ala1259Ser