Canonical Allele Identifier: CA515255143

Gene: SHANK3

Linked Data

• dbSNP Id: rs1364332468
• gnomAD v2: 22-51136097-G-T
• gnomAD v4: 22-50697669-G-T
• MyVariant Identifiers: chr22:g.51136097G>T (hg19) ; chr22:g.50697669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697669G>T , CM000684.2:g.50697669G>T	GRCh38
NC_000022.10:g.51136097G>T , CM000684.1:g.51136097G>T	GRCh37
NC_000022.9:g.49482963G>T	NCBI36
NG_008607.2:g.28315G>T
NG_070230.1:g.33534G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1053G>T	ENSP00000489147.2:p.Pro351=
ENST00000414786.7:n.1637G>T
ENST00000445220.7:c.105G>T	ENSP00000489407.2:p.Pro35=
ENST00000673971.2:c.1410G>T	ENSP00000501192.1:p.Pro470=
ENST00000445220.6:c.105G>T	ENSP00000489407.2:p.Pro35=
ENST00000262795.6:c.1053G>T	ENSP00000489147.2:p.Pro351=
ENST00000673971.1:c.1410G>T	ENSP00000501192.1:p.Pro470=
ENST00000673995.1:c.106G>T
ENST00000262795.5:c.1449G>T	ENSP00000489147.1:p.Pro483=
ENST00000414786.6:n.1637G>T
ENST00000445220.5:c.1431G>T	ENSP00000489407.1:p.Pro477=