Canonical Allele Identifier: CA515262866

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159990G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721562G>T , CM000684.2:g.50721562G>T	GRCh38
NC_000022.10:g.51159990G>T , CM000684.1:g.51159990G>T	GRCh37
NC_000022.9:g.49506856G>T	NCBI36
NG_008607.2:g.52208G>T
NG_070230.1:g.57346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3330G>T	ENSP00000489147.2:p.Gln1110His
ENST00000414786.7:n.3914G>T
ENST00000445220.7:c.2382G>T	ENSP00000489407.2:p.Gln794His
ENST00000664402.2:c.1872G>T	ENSP00000499475.1:p.Gln624His
ENST00000673971.2:c.*2328G>T	ENSP00000501192.1:n.*2328G>T
ENST00000445220.6:c.2382G>T	ENSP00000489407.2:p.Gln794His
ENST00000262795.6:c.3330G>T	ENSP00000489147.2:p.Gln1110His
ENST00000664402.1:c.1872G>T	ENSP00000499475.1:p.Gln624His
ENST00000673971.1:c.*2328G>T	ENSP00000501192.1:n.*2328G>T
ENST00000262795.5:c.3726G>T	ENSP00000489147.1:p.Gln1242His
ENST00000414786.6:n.3914G>T
ENST00000445220.5:c.3708G>T	ENSP00000489407.1:p.Gln1236His