Canonical Allele Identifier: CA515259726

Gene: SHANK3

Linked Data

• dbSNP Id: rs1419912081
• gnomAD v2: 22-51159023-G-T
• gnomAD v3: 22-50720595-G-T
• gnomAD v4: 22-50720595-G-T
• MyVariant Identifiers: chr22:g.51159023G>T (hg19) ; chr22:g.50720595G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720595G>T , CM000684.2:g.50720595G>T	GRCh38
NC_000022.10:g.51159023G>T , CM000684.1:g.51159023G>T	GRCh37
NC_000022.9:g.49505889G>T	NCBI36
NG_008607.2:g.51241G>T
NG_070230.1:g.56379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2363G>T	ENSP00000489147.2:p.Arg788Leu
ENST00000414786.7:n.2947G>T
ENST00000445220.7:c.1415G>T	ENSP00000489407.2:p.Arg472Leu
ENST00000664402.2:c.905G>T	ENSP00000499475.1:p.Arg302Leu
ENST00000673971.2:c.*1361G>T	ENSP00000501192.1:n.*1361G>T
ENST00000445220.6:c.1415G>T	ENSP00000489407.2:p.Arg472Leu
ENST00000262795.6:c.2363G>T	ENSP00000489147.2:p.Arg788Leu
ENST00000664402.1:c.905G>T	ENSP00000499475.1:p.Arg302Leu
ENST00000673971.1:c.*1361G>T	ENSP00000501192.1:n.*1361G>T
ENST00000262795.5:c.2759G>T	ENSP00000489147.1:p.Arg920Leu
ENST00000414786.6:n.2947G>T
ENST00000445220.5:c.2741G>T	ENSP00000489407.1:p.Arg914Leu