Canonical Allele Identifier: CA515260047

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720703-A-T
• MyVariant Identifiers: chr22:g.51159131A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720703A>T , CM000684.2:g.50720703A>T	GRCh38
NC_000022.10:g.51159131A>T , CM000684.1:g.51159131A>T	GRCh37
NC_000022.9:g.49505997A>T	NCBI36
NG_008607.2:g.51349A>T
NG_070230.1:g.56487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2471A>T	ENSP00000489147.2:p.Gln824Leu
ENST00000414786.7:n.3055A>T
ENST00000445220.7:c.1523A>T	ENSP00000489407.2:p.Gln508Leu
ENST00000664402.2:c.1013A>T	ENSP00000499475.1:p.Gln338Leu
ENST00000673971.2:c.*1469A>T	ENSP00000501192.1:n.*1469A>T
ENST00000445220.6:c.1523A>T	ENSP00000489407.2:p.Gln508Leu
ENST00000262795.6:c.2471A>T	ENSP00000489147.2:p.Gln824Leu
ENST00000664402.1:c.1013A>T	ENSP00000499475.1:p.Gln338Leu
ENST00000673971.1:c.*1469A>T	ENSP00000501192.1:n.*1469A>T
ENST00000262795.5:c.2867A>T	ENSP00000489147.1:p.Gln956Leu
ENST00000414786.6:n.3055A>T
ENST00000445220.5:c.2849A>T	ENSP00000489407.1:p.Gln950Leu