Canonical Allele Identifier: CA515259006

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720348-T-C
• MyVariant Identifiers: chr22:g.51158776T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720348T>C , CM000684.2:g.50720348T>C	GRCh38
NC_000022.10:g.51158776T>C , CM000684.1:g.51158776T>C	GRCh37
NC_000022.9:g.49505642T>C	NCBI36
NG_008607.2:g.50994T>C
NG_070230.1:g.56132T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2116T>C	ENSP00000489147.2:p.Ser706Pro
ENST00000414786.7:n.2700T>C
ENST00000445220.7:c.1168T>C	ENSP00000489407.2:p.Ser390Pro
ENST00000664402.2:c.658T>C	ENSP00000499475.1:p.Ser220Pro
ENST00000673971.2:c.*1114T>C	ENSP00000501192.1:n.*1114T>C
ENST00000445220.6:c.1168T>C	ENSP00000489407.2:p.Ser390Pro
ENST00000262795.6:c.2116T>C	ENSP00000489147.2:p.Ser706Pro
ENST00000664402.1:c.658T>C	ENSP00000499475.1:p.Ser220Pro
ENST00000673971.1:c.*1114T>C	ENSP00000501192.1:n.*1114T>C
ENST00000262795.5:c.2512T>C	ENSP00000489147.1:p.Ser838Pro
ENST00000414786.6:n.2700T>C
ENST00000445220.5:c.2494T>C	ENSP00000489407.1:p.Ser832Pro