Canonical Allele Identifier: CA515255102

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51136083A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697655A>C , CM000684.2:g.50697655A>C	GRCh38
NC_000022.10:g.51136083A>C , CM000684.1:g.51136083A>C	GRCh37
NC_000022.9:g.49482949A>C	NCBI36
NG_008607.2:g.28301A>C
NG_070230.1:g.33520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1039A>C	ENSP00000489147.2:p.Lys347Gln
ENST00000414786.7:n.1623A>C
ENST00000445220.7:c.91A>C	ENSP00000489407.2:p.Lys31Gln
ENST00000673971.2:c.1396A>C	ENSP00000501192.1:p.Lys466Gln
ENST00000445220.6:c.91A>C	ENSP00000489407.2:p.Lys31Gln
ENST00000262795.6:c.1039A>C	ENSP00000489147.2:p.Lys347Gln
ENST00000673971.1:c.1396A>C	ENSP00000501192.1:p.Lys466Gln
ENST00000673995.1:c.92A>C
ENST00000262795.5:c.1435A>C	ENSP00000489147.1:p.Lys479Gln
ENST00000414786.6:n.1623A>C
ENST00000445220.5:c.1417A>C	ENSP00000489407.1:p.Lys473Gln