Canonical Allele Identifier: CA515259072

Gene: SHANK3

Linked Data

• dbSNP Id: rs1409256734
• gnomAD v4: 22-50720370-G-T
• MyVariant Identifiers: chr22:g.51158798G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720370G>T , CM000684.2:g.50720370G>T	GRCh38
NC_000022.10:g.51158798G>T , CM000684.1:g.51158798G>T	GRCh37
NC_000022.9:g.49505664G>T	NCBI36
NG_008607.2:g.51016G>T
NG_070230.1:g.56154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2138G>T	ENSP00000489147.2:p.Arg713Leu
ENST00000414786.7:n.2722G>T
ENST00000445220.7:c.1190G>T	ENSP00000489407.2:p.Arg397Leu
ENST00000664402.2:c.680G>T	ENSP00000499475.1:p.Arg227Leu
ENST00000673971.2:c.*1136G>T	ENSP00000501192.1:n.*1136G>T
ENST00000445220.6:c.1190G>T	ENSP00000489407.2:p.Arg397Leu
ENST00000262795.6:c.2138G>T	ENSP00000489147.2:p.Arg713Leu
ENST00000664402.1:c.680G>T	ENSP00000499475.1:p.Arg227Leu
ENST00000673971.1:c.*1136G>T	ENSP00000501192.1:n.*1136G>T
ENST00000262795.5:c.2534G>T	ENSP00000489147.1:p.Arg845Leu
ENST00000414786.6:n.2722G>T
ENST00000445220.5:c.2516G>T	ENSP00000489407.1:p.Arg839Leu