Canonical Allele Identifier: CA515262236

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721389-A-C
• MyVariant Identifiers: chr22:g.51159817A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721389A>C , CM000684.2:g.50721389A>C	GRCh38
NC_000022.10:g.51159817A>C , CM000684.1:g.51159817A>C	GRCh37
NC_000022.9:g.49506683A>C	NCBI36
NG_008607.2:g.52035A>C
NG_070230.1:g.57173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3157A>C	ENSP00000489147.2:p.Lys1053Gln
ENST00000414786.7:n.3741A>C
ENST00000445220.7:c.2209A>C	ENSP00000489407.2:p.Lys737Gln
ENST00000664402.2:c.1699A>C	ENSP00000499475.1:p.Lys567Gln
ENST00000673971.2:c.*2155A>C	ENSP00000501192.1:n.*2155A>C
ENST00000445220.6:c.2209A>C	ENSP00000489407.2:p.Lys737Gln
ENST00000262795.6:c.3157A>C	ENSP00000489147.2:p.Lys1053Gln
ENST00000664402.1:c.1699A>C	ENSP00000499475.1:p.Lys567Gln
ENST00000673971.1:c.*2155A>C	ENSP00000501192.1:n.*2155A>C
ENST00000262795.5:c.3553A>C	ENSP00000489147.1:p.Lys1185Gln
ENST00000414786.6:n.3741A>C
ENST00000445220.5:c.3535A>C	ENSP00000489407.1:p.Lys1179Gln