Canonical Allele Identifier: CA515255075

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136073C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697645C>G , CM000684.2:g.50697645C>G	GRCh38
NC_000022.10:g.51136073C>G , CM000684.1:g.51136073C>G	GRCh37
NC_000022.9:g.49482939C>G	NCBI36
NG_008607.2:g.28291C>G
NG_070230.1:g.33510C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1029C>G	ENSP00000489147.2:p.Phe343Leu
ENST00000414786.7:n.1613C>G
ENST00000445220.7:c.81C>G	ENSP00000489407.2:p.Phe27Leu
ENST00000673971.2:c.1386C>G	ENSP00000501192.1:p.Phe462Leu
ENST00000445220.6:c.81C>G	ENSP00000489407.2:p.Phe27Leu
ENST00000262795.6:c.1029C>G	ENSP00000489147.2:p.Phe343Leu
ENST00000673971.1:c.1386C>G	ENSP00000501192.1:p.Phe462Leu
ENST00000673995.1:c.82C>G
ENST00000262795.5:c.1425C>G	ENSP00000489147.1:p.Phe475Leu
ENST00000414786.6:n.1613C>G
ENST00000445220.5:c.1407C>G	ENSP00000489407.1:p.Phe469Leu