Canonical Allele Identifier: CA515261078

Gene: SHANK3

Linked Data

• dbSNP Id: rs1340745209
• MyVariant Identifiers: chr22:g.51159499T>C (hg19) ; chr22:g.50721071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721071T>C , CM000684.2:g.50721071T>C	GRCh38
NC_000022.10:g.51159499T>C , CM000684.1:g.51159499T>C	GRCh37
NC_000022.9:g.49506365T>C	NCBI36
NG_008607.2:g.51717T>C
NG_070230.1:g.56855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2839T>C	ENSP00000489147.2:p.Leu947=
ENST00000414786.7:n.3423T>C
ENST00000445220.7:c.1891T>C	ENSP00000489407.2:p.Leu631=
ENST00000664402.2:c.1381T>C	ENSP00000499475.1:p.Leu461=
ENST00000673971.2:c.*1837T>C	ENSP00000501192.1:n.*1837T>C
ENST00000445220.6:c.1891T>C	ENSP00000489407.2:p.Leu631=
ENST00000262795.6:c.2839T>C	ENSP00000489147.2:p.Leu947=
ENST00000664402.1:c.1381T>C	ENSP00000499475.1:p.Leu461=
ENST00000673971.1:c.*1837T>C	ENSP00000501192.1:n.*1837T>C
ENST00000262795.5:c.3235T>C	ENSP00000489147.1:p.Leu1079=
ENST00000414786.6:n.3423T>C
ENST00000445220.5:c.3217T>C	ENSP00000489407.1:p.Leu1073=