Canonical Allele Identifier: CA16044390
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 375622
ClinVar RCV Id: RCV000417108
dbSNP Id: rs1057519406
MyVariant Identifiers: chr22:g.51123079G>T (hg19) chr22:g.50684651G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50684651G>T , CM000684.2:g.50684651G>T GRCh38
NC_000022.10:g.51123079G>T , CM000684.1:g.51123079G>T GRCh37
NC_000022.9:g.49469945G>T NCBI36
NG_008607.2:g.15010G>T
NG_070230.1:g.20379G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.673G>T ENSP00000489147.2:p.Val225Leu
ENST00000414786.7:n.1257G>T
ENST00000673971.2:c.1030G>T ENSP00000501192.1:p.Val344Leu
ENST00000691768.1:n.993G>T
ENST00000692848.1:c.1030G>T ENSP00000510794.1:p.Val344Leu
ENST00000262795.6:c.673G>T ENSP00000489147.2:p.Val225Leu
ENST00000673971.1:c.1030G>T ENSP00000501192.1:p.Val344Leu
ENST00000262795.5:c.1030G>T ENSP00000489147.1:p.Val344Leu
ENST00000414786.6:n.1257G>T
ENST00000445220.5:c.1030G>T ENSP00000489407.1:p.Val344Leu
NM_033517.1:c.1030G>T NP_277052.1:p.Val344Leu
NM_001372044.1:c.1255G>T NP_001358973.1:p.Val419Leu
NM_001372044.2:c.1255G>T MANE Select NP_001358973.1:p.Val419Leu
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