Canonical Allele Identifier: CA515260866

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159419T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720991T>G , CM000684.2:g.50720991T>G	GRCh38
NC_000022.10:g.51159419T>G , CM000684.1:g.51159419T>G	GRCh37
NC_000022.9:g.49506285T>G	NCBI36
NG_008607.2:g.51637T>G
NG_070230.1:g.56775T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2759T>G	ENSP00000489147.2:p.Ile920Ser
ENST00000414786.7:n.3343T>G
ENST00000445220.7:c.1811T>G	ENSP00000489407.2:p.Ile604Ser
ENST00000664402.2:c.1301T>G	ENSP00000499475.1:p.Ile434Ser
ENST00000673971.2:c.*1757T>G	ENSP00000501192.1:n.*1757T>G
ENST00000445220.6:c.1811T>G	ENSP00000489407.2:p.Ile604Ser
ENST00000262795.6:c.2759T>G	ENSP00000489147.2:p.Ile920Ser
ENST00000664402.1:c.1301T>G	ENSP00000499475.1:p.Ile434Ser
ENST00000673971.1:c.*1757T>G	ENSP00000501192.1:n.*1757T>G
ENST00000262795.5:c.3155T>G	ENSP00000489147.1:p.Ile1052Ser
ENST00000414786.6:n.3343T>G
ENST00000445220.5:c.3137T>G	ENSP00000489407.1:p.Ile1046Ser