Canonical Allele Identifier: CA515255037

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697632-C-A
• MyVariant Identifiers: chr22:g.51136060C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697632C>A , CM000684.2:g.50697632C>A	GRCh38
NC_000022.10:g.51136060C>A , CM000684.1:g.51136060C>A	GRCh37
NC_000022.9:g.49482926C>A	NCBI36
NG_008607.2:g.28278C>A
NG_070230.1:g.33497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1016C>A	ENSP00000489147.2:p.Pro339His
ENST00000414786.7:n.1600C>A
ENST00000445220.7:c.68C>A	ENSP00000489407.2:p.Pro23His
ENST00000673971.2:c.1373C>A	ENSP00000501192.1:p.Pro458His
ENST00000445220.6:c.68C>A	ENSP00000489407.2:p.Pro23His
ENST00000262795.6:c.1016C>A	ENSP00000489147.2:p.Pro339His
ENST00000673971.1:c.1373C>A	ENSP00000501192.1:p.Pro458His
ENST00000673995.1:c.69C>A
ENST00000262795.5:c.1412C>A	ENSP00000489147.1:p.Pro471His
ENST00000414786.6:n.1600C>A
ENST00000445220.5:c.1394C>A	ENSP00000489407.1:p.Pro465His