Canonical Allele Identifier: CA515264636

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160595A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722167A>T , CM000684.2:g.50722167A>T	GRCh38
NC_000022.10:g.51160595A>T , CM000684.1:g.51160595A>T	GRCh37
NC_000022.9:g.49507461A>T	NCBI36
NG_008607.2:g.52813A>T
NG_070230.1:g.57951A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3935A>T	ENSP00000489147.2:p.Gln1312Leu
ENST00000414786.7:n.4519A>T
ENST00000445220.7:c.2987A>T	ENSP00000489407.2:p.Gln996Leu
ENST00000664402.2:c.2477A>T	ENSP00000499475.1:p.Gln826Leu
ENST00000673971.2:c.*2933A>T	ENSP00000501192.1:n.*2933A>T
ENST00000445220.6:c.2987A>T	ENSP00000489407.2:p.Gln996Leu
ENST00000262795.6:c.3935A>T	ENSP00000489147.2:p.Gln1312Leu
ENST00000664402.1:c.2477A>T	ENSP00000499475.1:p.Gln826Leu
ENST00000673971.1:c.*2933A>T	ENSP00000501192.1:n.*2933A>T
ENST00000262795.5:c.4331A>T	ENSP00000489147.1:p.Gln1444Leu
ENST00000414786.6:n.4519A>T
ENST00000445220.5:c.4313A>T	ENSP00000489407.1:p.Gln1438Leu