Canonical Allele Identifier: CA515267300

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50731040-C-T
• MyVariant Identifiers: chr22:g.51169468C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731040C>T , CM000684.2:g.50731040C>T	GRCh38
NC_000022.10:g.51169468C>T , CM000684.1:g.51169468C>T	GRCh37
NC_000022.9:g.49516334C>T	NCBI36
NG_008607.2:g.61686C>T
NG_070230.1:g.66824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4552C>T	ENSP00000489147.2:p.Leu1518=
ENST00000414786.7:n.5136C>T
ENST00000445220.7:c.3604C>T	ENSP00000489407.2:p.Leu1202=
ENST00000664402.2:c.3094C>T	ENSP00000499475.1:p.Leu1032=
ENST00000673971.2:c.*3550C>T	ENSP00000501192.1:n.*3550C>T
ENST00000445220.6:c.3604C>T	ENSP00000489407.2:p.Leu1202=
ENST00000262795.6:c.4552C>T	ENSP00000489147.2:p.Leu1518=
ENST00000659388.1:c.367C>T	ENSP00000499632.1:p.Leu123=
ENST00000664402.1:c.3094C>T	ENSP00000499475.1:p.Leu1032=
ENST00000673971.1:c.*3550C>T	ENSP00000501192.1:n.*3550C>T
ENST00000262795.5:c.4921C>T	ENSP00000489147.1:p.Leu1641=
ENST00000414786.6:n.5136C>T
ENST00000445220.5:c.4903C>T	ENSP00000489407.1:p.Leu1635=