Canonical Allele Identifier: CA515261043

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721058-T-C
• MyVariant Identifiers: chr22:g.51159486T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721058T>C , CM000684.2:g.50721058T>C	GRCh38
NC_000022.10:g.51159486T>C , CM000684.1:g.51159486T>C	GRCh37
NC_000022.9:g.49506352T>C	NCBI36
NG_008607.2:g.51704T>C
NG_070230.1:g.56842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2826T>C	ENSP00000489147.2:p.Ser942=
ENST00000414786.7:n.3410T>C
ENST00000445220.7:c.1878T>C	ENSP00000489407.2:p.Ser626=
ENST00000664402.2:c.1368T>C	ENSP00000499475.1:p.Ser456=
ENST00000673971.2:c.*1824T>C	ENSP00000501192.1:n.*1824T>C
ENST00000445220.6:c.1878T>C	ENSP00000489407.2:p.Ser626=
ENST00000262795.6:c.2826T>C	ENSP00000489147.2:p.Ser942=
ENST00000664402.1:c.1368T>C	ENSP00000499475.1:p.Ser456=
ENST00000673971.1:c.*1824T>C	ENSP00000501192.1:n.*1824T>C
ENST00000262795.5:c.3222T>C	ENSP00000489147.1:p.Ser1074=
ENST00000414786.6:n.3410T>C
ENST00000445220.5:c.3204T>C	ENSP00000489407.1:p.Ser1068=