Canonical Allele Identifier: CA515261222

Gene: SHANK3

Linked Data

• dbSNP Id: rs1349214061
• gnomAD v2: 22-51159552-C-T
• gnomAD v4: 22-50721124-C-T
• MyVariant Identifiers: chr22:g.51159552C>T (hg19) ; chr22:g.50721124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721124C>T , CM000684.2:g.50721124C>T	GRCh38
NC_000022.10:g.51159552C>T , CM000684.1:g.51159552C>T	GRCh37
NC_000022.9:g.49506418C>T	NCBI36
NG_008607.2:g.51770C>T
NG_070230.1:g.56908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2892C>T	ENSP00000489147.2:p.Leu964=
ENST00000414786.7:n.3476C>T
ENST00000445220.7:c.1944C>T	ENSP00000489407.2:p.Leu648=
ENST00000664402.2:c.1434C>T	ENSP00000499475.1:p.Leu478=
ENST00000673971.2:c.*1890C>T	ENSP00000501192.1:n.*1890C>T
ENST00000445220.6:c.1944C>T	ENSP00000489407.2:p.Leu648=
ENST00000262795.6:c.2892C>T	ENSP00000489147.2:p.Leu964=
ENST00000664402.1:c.1434C>T	ENSP00000499475.1:p.Leu478=
ENST00000673971.1:c.*1890C>T	ENSP00000501192.1:n.*1890C>T
ENST00000262795.5:c.3288C>T	ENSP00000489147.1:p.Leu1096=
ENST00000414786.6:n.3476C>T
ENST00000445220.5:c.3270C>T	ENSP00000489407.1:p.Leu1090=