Canonical Allele Identifier: CA515255177

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697680-G-C
• MyVariant Identifiers: chr22:g.51136108G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697680G>C , CM000684.2:g.50697680G>C	GRCh38
NC_000022.10:g.51136108G>C , CM000684.1:g.51136108G>C	GRCh37
NC_000022.9:g.49482974G>C	NCBI36
NG_008607.2:g.28326G>C
NG_070230.1:g.33545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1064G>C	ENSP00000489147.2:p.Gly355Ala
ENST00000414786.7:n.1648G>C
ENST00000445220.7:c.116G>C	ENSP00000489407.2:p.Gly39Ala
ENST00000673971.2:c.1421G>C	ENSP00000501192.1:p.Gly474Ala
ENST00000445220.6:c.116G>C	ENSP00000489407.2:p.Gly39Ala
ENST00000262795.6:c.1064G>C	ENSP00000489147.2:p.Gly355Ala
ENST00000673971.1:c.1421G>C	ENSP00000501192.1:p.Gly474Ala
ENST00000673995.1:c.117G>C
ENST00000262795.5:c.1460G>C	ENSP00000489147.1:p.Gly487Ala
ENST00000414786.6:n.1648G>C
ENST00000445220.5:c.1442G>C	ENSP00000489407.1:p.Gly481Ala