Canonical Allele Identifier: CA515264572
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51160573T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50722145T>C , CM000684.2:g.50722145T>C GRCh38
NC_000022.10:g.51160573T>C , CM000684.1:g.51160573T>C GRCh37
NC_000022.9:g.49507439T>C NCBI36
NG_008607.2:g.52791T>C
NG_070230.1:g.57929T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3913T>C ENSP00000489147.2:p.Ser1305Pro
ENST00000414786.7:n.4497T>C
ENST00000445220.7:c.2965T>C ENSP00000489407.2:p.Ser989Pro
ENST00000664402.2:c.2455T>C ENSP00000499475.1:p.Ser819Pro
ENST00000673971.2:c.*2911T>C ENSP00000501192.1:n.*2911T>C
ENST00000445220.6:c.2965T>C ENSP00000489407.2:p.Ser989Pro
ENST00000262795.6:c.3913T>C ENSP00000489147.2:p.Ser1305Pro
ENST00000664402.1:c.2455T>C ENSP00000499475.1:p.Ser819Pro
ENST00000673971.1:c.*2911T>C ENSP00000501192.1:n.*2911T>C
ENST00000262795.5:c.4309T>C ENSP00000489147.1:p.Ser1437Pro
ENST00000414786.6:n.4497T>C
ENST00000445220.5:c.4291T>C ENSP00000489407.1:p.Ser1431Pro