Canonical Allele Identifier: CA515262149

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159790G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721362G>T , CM000684.2:g.50721362G>T	GRCh38
NC_000022.10:g.51159790G>T , CM000684.1:g.51159790G>T	GRCh37
NC_000022.9:g.49506656G>T	NCBI36
NG_008607.2:g.52008G>T
NG_070230.1:g.57146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3130G>T	ENSP00000489147.2:p.Ala1044Ser
ENST00000414786.7:n.3714G>T
ENST00000445220.7:c.2182G>T	ENSP00000489407.2:p.Ala728Ser
ENST00000664402.2:c.1672G>T	ENSP00000499475.1:p.Ala558Ser
ENST00000673971.2:c.*2128G>T	ENSP00000501192.1:n.*2128G>T
ENST00000445220.6:c.2182G>T	ENSP00000489407.2:p.Ala728Ser
ENST00000262795.6:c.3130G>T	ENSP00000489147.2:p.Ala1044Ser
ENST00000664402.1:c.1672G>T	ENSP00000499475.1:p.Ala558Ser
ENST00000673971.1:c.*2128G>T	ENSP00000501192.1:n.*2128G>T
ENST00000262795.5:c.3526G>T	ENSP00000489147.1:p.Ala1176Ser
ENST00000414786.6:n.3714G>T
ENST00000445220.5:c.3508G>T	ENSP00000489407.1:p.Ala1170Ser