Canonical Allele Identifier: CA515255101

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697654-G-T
• MyVariant Identifiers: chr22:g.51136082G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697654G>T , CM000684.2:g.50697654G>T	GRCh38
NC_000022.10:g.51136082G>T , CM000684.1:g.51136082G>T	GRCh37
NC_000022.9:g.49482948G>T	NCBI36
NG_008607.2:g.28300G>T
NG_070230.1:g.33519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1038G>T	ENSP00000489147.2:p.Val346=
ENST00000414786.7:n.1622G>T
ENST00000445220.7:c.90G>T	ENSP00000489407.2:p.Val30=
ENST00000673971.2:c.1395G>T	ENSP00000501192.1:p.Val465=
ENST00000445220.6:c.90G>T	ENSP00000489407.2:p.Val30=
ENST00000262795.6:c.1038G>T	ENSP00000489147.2:p.Val346=
ENST00000673971.1:c.1395G>T	ENSP00000501192.1:p.Val465=
ENST00000673995.1:c.91G>T
ENST00000262795.5:c.1434G>T	ENSP00000489147.1:p.Val478=
ENST00000414786.6:n.1622G>T
ENST00000445220.5:c.1416G>T	ENSP00000489407.1:p.Val472=