Canonical Allele Identifier: CA640053499

Gene: SHANK3

Linked Data

• dbSNP Id: rs1274521878
• gnomAD v2: 22-51136381-C-T
• MyVariant Identifiers: chr22:g.51136381C>T (hg19) ; chr22:g.50697953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697953C>T , CM000684.2:g.50697953C>T	GRCh38
NC_000022.10:g.51136381C>T , CM000684.1:g.51136381C>T	GRCh37
NC_000022.9:g.49483247C>T	NCBI36
NG_008607.2:g.28599C>T
NG_070230.1:g.33817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+238C>T	ENSP00000489147.2:n.1099+238C>T
ENST00000414786.7:n.1683+238C>T
ENST00000445220.7:c.151+238C>T	ENSP00000489407.2:n.151+238C>T
ENST00000673971.2:c.1456+238C>T	ENSP00000501192.1:n.1456+238C>T
ENST00000445220.6:c.151+238C>T	ENSP00000489407.2:n.151+238C>T
ENST00000262795.6:c.1099+238C>T	ENSP00000489147.2:n.1099+238C>T
ENST00000673971.1:c.1456+238C>T	ENSP00000501192.1:n.1456+238C>T
ENST00000673995.1:c.153-191C>T
ENST00000262795.5:c.1495+238C>T	ENSP00000489147.1:n.1495+238C>T
ENST00000414786.6:n.1683+238C>T
ENST00000445220.5:c.1477+238C>T	ENSP00000489407.1:n.1477+238C>T