Canonical Allele Identifier: CA515264495

Gene: SHANK3

Linked Data

• dbSNP Id: rs1197040874
• gnomAD v2: 22-51160551-G-T
• MyVariant Identifiers: chr22:g.51160551G>T (hg19) ; chr22:g.50722123G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722123G>T , CM000684.2:g.50722123G>T	GRCh38
NC_000022.10:g.51160551G>T , CM000684.1:g.51160551G>T	GRCh37
NC_000022.9:g.49507417G>T	NCBI36
NG_008607.2:g.52769G>T
NG_070230.1:g.57907G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3891G>T	ENSP00000489147.2:p.Arg1297Ser
ENST00000414786.7:n.4475G>T
ENST00000445220.7:c.2943G>T	ENSP00000489407.2:p.Arg981Ser
ENST00000664402.2:c.2433G>T	ENSP00000499475.1:p.Arg811Ser
ENST00000673971.2:c.*2889G>T	ENSP00000501192.1:n.*2889G>T
ENST00000445220.6:c.2943G>T	ENSP00000489407.2:p.Arg981Ser
ENST00000262795.6:c.3891G>T	ENSP00000489147.2:p.Arg1297Ser
ENST00000664402.1:c.2433G>T	ENSP00000499475.1:p.Arg811Ser
ENST00000673971.1:c.*2889G>T	ENSP00000501192.1:n.*2889G>T
ENST00000262795.5:c.4287G>T	ENSP00000489147.1:p.Arg1429Ser
ENST00000414786.6:n.4475G>T
ENST00000445220.5:c.4269G>T	ENSP00000489407.1:p.Arg1423Ser