Canonical Allele Identifier: CA515260957

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721027-G-T
• COSMIC: COSM5974452 ; COSM5974453
• MyVariant Identifiers: chr22:g.51159455G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721027G>T , CM000684.2:g.50721027G>T	GRCh38
NC_000022.10:g.51159455G>T , CM000684.1:g.51159455G>T	GRCh37
NC_000022.9:g.49506321G>T	NCBI36
NG_008607.2:g.51673G>T
NG_070230.1:g.56811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2795G>T	ENSP00000489147.2:p.Gly932Val
ENST00000414786.7:n.3379G>T
ENST00000445220.7:c.1847G>T	ENSP00000489407.2:p.Gly616Val
ENST00000664402.2:c.1337G>T	ENSP00000499475.1:p.Gly446Val
ENST00000673971.2:c.*1793G>T	ENSP00000501192.1:n.*1793G>T
ENST00000445220.6:c.1847G>T	ENSP00000489407.2:p.Gly616Val
ENST00000262795.6:c.2795G>T	ENSP00000489147.2:p.Gly932Val
ENST00000664402.1:c.1337G>T	ENSP00000499475.1:p.Gly446Val
ENST00000673971.1:c.*1793G>T	ENSP00000501192.1:n.*1793G>T
ENST00000262795.5:c.3191G>T	ENSP00000489147.1:p.Gly1064Val
ENST00000414786.6:n.3379G>T
ENST00000445220.5:c.3173G>T	ENSP00000489407.1:p.Gly1058Val