Canonical Allele Identifier: CA515267055
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427096
ClinVar RCV Id: RCV000489935
dbSNP Id: rs1085307954
MyVariant Identifiers: chr22:g.51169405A>T (hg19) chr22:g.50730977A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50730977A>T , CM000684.2:g.50730977A>T GRCh38
NC_000022.10:g.51169405A>T , CM000684.1:g.51169405A>T GRCh37
NC_000022.9:g.49516271A>T NCBI36
NG_008607.2:g.61623A>T
NG_070230.1:g.66761A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.4489A>T ENSP00000489147.2:p.Lys1497Ter
ENST00000414786.7:n.5073A>T
ENST00000445220.7:c.3541A>T ENSP00000489407.2:p.Lys1181Ter
ENST00000664402.2:c.3031A>T ENSP00000499475.1:p.Lys1011Ter
ENST00000673971.2:c.*3487A>T ENSP00000501192.1:n.*3487A>T
ENST00000445220.6:c.3541A>T ENSP00000489407.2:p.Lys1181Ter
ENST00000262795.6:c.4489A>T ENSP00000489147.2:p.Lys1497Ter
ENST00000659388.1:c.304A>T ENSP00000499632.1:p.Lys102Ter
ENST00000664402.1:c.3031A>T ENSP00000499475.1:p.Lys1011Ter
ENST00000673971.1:c.*3487A>T ENSP00000501192.1:n.*3487A>T
ENST00000262795.5:c.4858A>T ENSP00000489147.1:p.Lys1620Ter
ENST00000414786.6:n.5073A>T
ENST00000445220.5:c.4840A>T ENSP00000489407.1:p.Lys1614Ter
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