Canonical Allele Identifier: CA515266926

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730945-A-C
• MyVariant Identifiers: chr22:g.51169373A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730945A>C , CM000684.2:g.50730945A>C	GRCh38
NC_000022.10:g.51169373A>C , CM000684.1:g.51169373A>C	GRCh37
NC_000022.9:g.49516239A>C	NCBI36
NG_008607.2:g.61591A>C
NG_070230.1:g.66729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4457A>C	ENSP00000489147.2:p.Lys1486Thr
ENST00000414786.7:n.5041A>C
ENST00000445220.7:c.3509A>C	ENSP00000489407.2:p.Lys1170Thr
ENST00000664402.2:c.2999A>C	ENSP00000499475.1:p.Lys1000Thr
ENST00000673971.2:c.*3455A>C	ENSP00000501192.1:n.*3455A>C
ENST00000445220.6:c.3509A>C	ENSP00000489407.2:p.Lys1170Thr
ENST00000262795.6:c.4457A>C	ENSP00000489147.2:p.Lys1486Thr
ENST00000659388.1:c.272A>C	ENSP00000499632.1:p.Lys91Thr
ENST00000664402.1:c.2999A>C	ENSP00000499475.1:p.Lys1000Thr
ENST00000673971.1:c.*3455A>C	ENSP00000501192.1:n.*3455A>C
ENST00000262795.5:c.4826A>C	ENSP00000489147.1:p.Lys1609Thr
ENST00000414786.6:n.5041A>C
ENST00000445220.5:c.4808A>C	ENSP00000489407.1:p.Lys1603Thr