Canonical Allele Identifier: CA515262243

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159819G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721391G>C , CM000684.2:g.50721391G>C	GRCh38
NC_000022.10:g.51159819G>C , CM000684.1:g.51159819G>C	GRCh37
NC_000022.9:g.49506685G>C	NCBI36
NG_008607.2:g.52037G>C
NG_070230.1:g.57175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3159G>C	ENSP00000489147.2:p.Lys1053Asn
ENST00000414786.7:n.3743G>C
ENST00000445220.7:c.2211G>C	ENSP00000489407.2:p.Lys737Asn
ENST00000664402.2:c.1701G>C	ENSP00000499475.1:p.Lys567Asn
ENST00000673971.2:c.*2157G>C	ENSP00000501192.1:n.*2157G>C
ENST00000445220.6:c.2211G>C	ENSP00000489407.2:p.Lys737Asn
ENST00000262795.6:c.3159G>C	ENSP00000489147.2:p.Lys1053Asn
ENST00000664402.1:c.1701G>C	ENSP00000499475.1:p.Lys567Asn
ENST00000673971.1:c.*2157G>C	ENSP00000501192.1:n.*2157G>C
ENST00000262795.5:c.3555G>C	ENSP00000489147.1:p.Lys1185Asn
ENST00000414786.6:n.3743G>C
ENST00000445220.5:c.3537G>C	ENSP00000489407.1:p.Lys1179Asn