Canonical Allele Identifier: CA515259018

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720352-C-T
• MyVariant Identifiers: chr22:g.51158780C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720352C>T , CM000684.2:g.50720352C>T	GRCh38
NC_000022.10:g.51158780C>T , CM000684.1:g.51158780C>T	GRCh37
NC_000022.9:g.49505646C>T	NCBI36
NG_008607.2:g.50998C>T
NG_070230.1:g.56136C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2120C>T	ENSP00000489147.2:p.Pro707Leu
ENST00000414786.7:n.2704C>T
ENST00000445220.7:c.1172C>T	ENSP00000489407.2:p.Pro391Leu
ENST00000664402.2:c.662C>T	ENSP00000499475.1:p.Pro221Leu
ENST00000673971.2:c.*1118C>T	ENSP00000501192.1:n.*1118C>T
ENST00000445220.6:c.1172C>T	ENSP00000489407.2:p.Pro391Leu
ENST00000262795.6:c.2120C>T	ENSP00000489147.2:p.Pro707Leu
ENST00000664402.1:c.662C>T	ENSP00000499475.1:p.Pro221Leu
ENST00000673971.1:c.*1118C>T	ENSP00000501192.1:n.*1118C>T
ENST00000262795.5:c.2516C>T	ENSP00000489147.1:p.Pro839Leu
ENST00000414786.6:n.2704C>T
ENST00000445220.5:c.2498C>T	ENSP00000489407.1:p.Pro833Leu