Canonical Allele Identifier: CA515260832

Gene: SHANK3

Linked Data

• dbSNP Id: rs1224212638
• gnomAD v2: 22-51159407-C-T
• gnomAD v4: 22-50720979-C-T
• MyVariant Identifiers: chr22:g.51159407C>T (hg19) ; chr22:g.50720979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720979C>T , CM000684.2:g.50720979C>T	GRCh38
NC_000022.10:g.51159407C>T , CM000684.1:g.51159407C>T	GRCh37
NC_000022.9:g.49506273C>T	NCBI36
NG_008607.2:g.51625C>T
NG_070230.1:g.56763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2747C>T	ENSP00000489147.2:p.Pro916Leu
ENST00000414786.7:n.3331C>T
ENST00000445220.7:c.1799C>T	ENSP00000489407.2:p.Pro600Leu
ENST00000664402.2:c.1289C>T	ENSP00000499475.1:p.Pro430Leu
ENST00000673971.2:c.*1745C>T	ENSP00000501192.1:n.*1745C>T
ENST00000445220.6:c.1799C>T	ENSP00000489407.2:p.Pro600Leu
ENST00000262795.6:c.2747C>T	ENSP00000489147.2:p.Pro916Leu
ENST00000664402.1:c.1289C>T	ENSP00000499475.1:p.Pro430Leu
ENST00000673971.1:c.*1745C>T	ENSP00000501192.1:n.*1745C>T
ENST00000262795.5:c.3143C>T	ENSP00000489147.1:p.Pro1048Leu
ENST00000414786.6:n.3331C>T
ENST00000445220.5:c.3125C>T	ENSP00000489407.1:p.Pro1042Leu