Canonical Allele Identifier: CA515254879

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697577-G-T
• MyVariant Identifiers: chr22:g.51136005G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697577G>T , CM000684.2:g.50697577G>T	GRCh38
NC_000022.10:g.51136005G>T , CM000684.1:g.51136005G>T	GRCh37
NC_000022.9:g.49482871G>T	NCBI36
NG_008607.2:g.28223G>T
NG_070230.1:g.33442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.961G>T	ENSP00000489147.2:p.Ala321Ser
ENST00000414786.7:n.1545G>T
ENST00000445220.7:c.13G>T	ENSP00000489407.2:p.Ala5Ser
ENST00000673971.2:c.1318G>T	ENSP00000501192.1:p.Ala440Ser
ENST00000445220.6:c.13G>T	ENSP00000489407.2:p.Ala5Ser
ENST00000262795.6:c.961G>T	ENSP00000489147.2:p.Ala321Ser
ENST00000673971.1:c.1318G>T	ENSP00000501192.1:p.Ala440Ser
ENST00000673995.1:c.14G>T
ENST00000262795.5:c.1357G>T	ENSP00000489147.1:p.Ala453Ser
ENST00000414786.6:n.1545G>T
ENST00000445220.5:c.1339G>T	ENSP00000489407.1:p.Ala447Ser