Canonical Allele Identifier: CA515260583

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720889-G-T
• MyVariant Identifiers: chr22:g.51159317G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720889G>T , CM000684.2:g.50720889G>T	GRCh38
NC_000022.10:g.51159317G>T , CM000684.1:g.51159317G>T	GRCh37
NC_000022.9:g.49506183G>T	NCBI36
NG_008607.2:g.51535G>T
NG_070230.1:g.56673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2657G>T	ENSP00000489147.2:p.Arg886Leu
ENST00000414786.7:n.3241G>T
ENST00000445220.7:c.1709G>T	ENSP00000489407.2:p.Arg570Leu
ENST00000664402.2:c.1199G>T	ENSP00000499475.1:p.Arg400Leu
ENST00000673971.2:c.*1655G>T	ENSP00000501192.1:n.*1655G>T
ENST00000445220.6:c.1709G>T	ENSP00000489407.2:p.Arg570Leu
ENST00000262795.6:c.2657G>T	ENSP00000489147.2:p.Arg886Leu
ENST00000664402.1:c.1199G>T	ENSP00000499475.1:p.Arg400Leu
ENST00000673971.1:c.*1655G>T	ENSP00000501192.1:n.*1655G>T
ENST00000262795.5:c.3053G>T	ENSP00000489147.1:p.Arg1018Leu
ENST00000414786.6:n.3241G>T
ENST00000445220.5:c.3035G>T	ENSP00000489407.1:p.Arg1012Leu