Canonical Allele Identifier: CA515259029

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720356-G-C
• MyVariant Identifiers: chr22:g.51158784G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720356G>C , CM000684.2:g.50720356G>C	GRCh38
NC_000022.10:g.51158784G>C , CM000684.1:g.51158784G>C	GRCh37
NC_000022.9:g.49505650G>C	NCBI36
NG_008607.2:g.51002G>C
NG_070230.1:g.56140G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2124G>C	ENSP00000489147.2:p.Pro708=
ENST00000414786.7:n.2708G>C
ENST00000445220.7:c.1176G>C	ENSP00000489407.2:p.Pro392=
ENST00000664402.2:c.666G>C	ENSP00000499475.1:p.Pro222=
ENST00000673971.2:c.*1122G>C	ENSP00000501192.1:n.*1122G>C
ENST00000445220.6:c.1176G>C	ENSP00000489407.2:p.Pro392=
ENST00000262795.6:c.2124G>C	ENSP00000489147.2:p.Pro708=
ENST00000664402.1:c.666G>C	ENSP00000499475.1:p.Pro222=
ENST00000673971.1:c.*1122G>C	ENSP00000501192.1:n.*1122G>C
ENST00000262795.5:c.2520G>C	ENSP00000489147.1:p.Pro840=
ENST00000414786.6:n.2708G>C
ENST00000445220.5:c.2502G>C	ENSP00000489407.1:p.Pro834=