Canonical Allele Identifier: CA515262076

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721341-C-T
• MyVariant Identifiers: chr22:g.51159769C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721341C>T , CM000684.2:g.50721341C>T	GRCh38
NC_000022.10:g.51159769C>T , CM000684.1:g.51159769C>T	GRCh37
NC_000022.9:g.49506635C>T	NCBI36
NG_008607.2:g.51987C>T
NG_070230.1:g.57125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3109C>T	ENSP00000489147.2:p.Pro1037Ser
ENST00000414786.7:n.3693C>T
ENST00000445220.7:c.2161C>T	ENSP00000489407.2:p.Pro721Ser
ENST00000664402.2:c.1651C>T	ENSP00000499475.1:p.Pro551Ser
ENST00000673971.2:c.*2107C>T	ENSP00000501192.1:n.*2107C>T
ENST00000445220.6:c.2161C>T	ENSP00000489407.2:p.Pro721Ser
ENST00000262795.6:c.3109C>T	ENSP00000489147.2:p.Pro1037Ser
ENST00000664402.1:c.1651C>T	ENSP00000499475.1:p.Pro551Ser
ENST00000673971.1:c.*2107C>T	ENSP00000501192.1:n.*2107C>T
ENST00000262795.5:c.3505C>T	ENSP00000489147.1:p.Pro1169Ser
ENST00000414786.6:n.3693C>T
ENST00000445220.5:c.3487C>T	ENSP00000489407.1:p.Pro1163Ser