Canonical Allele Identifier: CA515255205

Gene: SHANK3

Linked Data

• dbSNP Id: rs1224835449
• gnomAD v2: 22-51136117-C-T
• gnomAD v4: 22-50697689-C-T
• MyVariant Identifiers: chr22:g.51136117C>T (hg19) ; chr22:g.50697689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697689C>T , CM000684.2:g.50697689C>T	GRCh38
NC_000022.10:g.51136117C>T , CM000684.1:g.51136117C>T	GRCh37
NC_000022.9:g.49482983C>T	NCBI36
NG_008607.2:g.28335C>T
NG_070230.1:g.33554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1073C>T	ENSP00000489147.2:p.Pro358Leu
ENST00000414786.7:n.1657C>T
ENST00000445220.7:c.125C>T	ENSP00000489407.2:p.Pro42Leu
ENST00000673971.2:c.1430C>T	ENSP00000501192.1:p.Pro477Leu
ENST00000445220.6:c.125C>T	ENSP00000489407.2:p.Pro42Leu
ENST00000262795.6:c.1073C>T	ENSP00000489147.2:p.Pro358Leu
ENST00000673971.1:c.1430C>T	ENSP00000501192.1:p.Pro477Leu
ENST00000673995.1:c.126C>T
ENST00000262795.5:c.1469C>T	ENSP00000489147.1:p.Pro490Leu
ENST00000414786.6:n.1657C>T
ENST00000445220.5:c.1451C>T	ENSP00000489407.1:p.Pro484Leu