Canonical Allele Identifier: CA515255070
Gene: SHANK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51136071T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697643T>A , CM000684.2:g.50697643T>A GRCh38
NC_000022.10:g.51136071T>A , CM000684.1:g.51136071T>A GRCh37
NC_000022.9:g.49482937T>A NCBI36
NG_008607.2:g.28289T>A
NG_070230.1:g.33508T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1027T>A ENSP00000489147.2:p.Phe343Ile
ENST00000414786.7:n.1611T>A
ENST00000445220.7:c.79T>A ENSP00000489407.2:p.Phe27Ile
ENST00000673971.2:c.1384T>A ENSP00000501192.1:p.Phe462Ile
ENST00000445220.6:c.79T>A ENSP00000489407.2:p.Phe27Ile
ENST00000262795.6:c.1027T>A ENSP00000489147.2:p.Phe343Ile
ENST00000673971.1:c.1384T>A ENSP00000501192.1:p.Phe462Ile
ENST00000673995.1:c.80T>A
ENST00000262795.5:c.1423T>A ENSP00000489147.1:p.Phe475Ile
ENST00000414786.6:n.1611T>A
ENST00000445220.5:c.1405T>A ENSP00000489407.1:p.Phe469Ile