Canonical Allele Identifier: CA515262318

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083287131
• gnomAD v3: 22-50721415-G-A
• gnomAD v4: 22-50721415-G-A
• MyVariant Identifiers: chr22:g.51159843G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721415G>A , CM000684.2:g.50721415G>A	GRCh38
NC_000022.10:g.51159843G>A , CM000684.1:g.51159843G>A	GRCh37
NC_000022.9:g.49506709G>A	NCBI36
NG_008607.2:g.52061G>A
NG_070230.1:g.57199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3183G>A	ENSP00000489147.2:p.Met1061Ile
ENST00000414786.7:n.3767G>A
ENST00000445220.7:c.2235G>A	ENSP00000489407.2:p.Met745Ile
ENST00000664402.2:c.1725G>A	ENSP00000499475.1:p.Met575Ile
ENST00000673971.2:c.*2181G>A	ENSP00000501192.1:n.*2181G>A
ENST00000445220.6:c.2235G>A	ENSP00000489407.2:p.Met745Ile
ENST00000262795.6:c.3183G>A	ENSP00000489147.2:p.Met1061Ile
ENST00000664402.1:c.1725G>A	ENSP00000499475.1:p.Met575Ile
ENST00000673971.1:c.*2181G>A	ENSP00000501192.1:n.*2181G>A
ENST00000262795.5:c.3579G>A	ENSP00000489147.1:p.Met1193Ile
ENST00000414786.6:n.3767G>A
ENST00000445220.5:c.3561G>A	ENSP00000489407.1:p.Met1187Ile