Canonical Allele Identifier: CA515255151

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697671-A-T
• MyVariant Identifiers: chr22:g.51136099A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697671A>T , CM000684.2:g.50697671A>T	GRCh38
NC_000022.10:g.51136099A>T , CM000684.1:g.51136099A>T	GRCh37
NC_000022.9:g.49482965A>T	NCBI36
NG_008607.2:g.28317A>T
NG_070230.1:g.33536A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1055A>T	ENSP00000489147.2:p.Gln352Leu
ENST00000414786.7:n.1639A>T
ENST00000445220.7:c.107A>T	ENSP00000489407.2:p.Gln36Leu
ENST00000673971.2:c.1412A>T	ENSP00000501192.1:p.Gln471Leu
ENST00000445220.6:c.107A>T	ENSP00000489407.2:p.Gln36Leu
ENST00000262795.6:c.1055A>T	ENSP00000489147.2:p.Gln352Leu
ENST00000673971.1:c.1412A>T	ENSP00000501192.1:p.Gln471Leu
ENST00000673995.1:c.108A>T
ENST00000262795.5:c.1451A>T	ENSP00000489147.1:p.Gln484Leu
ENST00000414786.6:n.1639A>T
ENST00000445220.5:c.1433A>T	ENSP00000489407.1:p.Gln478Leu