Canonical Allele Identifier: CA515261121

Gene: SHANK3

Linked Data

• dbSNP Id: rs1348859127
• gnomAD v2: 22-51159515-G-T
• gnomAD v3: 22-50721087-G-T
• gnomAD v4: 22-50721087-G-T
• MyVariant Identifiers: chr22:g.51159515G>T (hg19) ; chr22:g.50721087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721087G>T , CM000684.2:g.50721087G>T	GRCh38
NC_000022.10:g.51159515G>T , CM000684.1:g.51159515G>T	GRCh37
NC_000022.9:g.49506381G>T	NCBI36
NG_008607.2:g.51733G>T
NG_070230.1:g.56871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2855G>T	ENSP00000489147.2:p.Ser952Ile
ENST00000414786.7:n.3439G>T
ENST00000445220.7:c.1907G>T	ENSP00000489407.2:p.Ser636Ile
ENST00000664402.2:c.1397G>T	ENSP00000499475.1:p.Ser466Ile
ENST00000673971.2:c.*1853G>T	ENSP00000501192.1:n.*1853G>T
ENST00000445220.6:c.1907G>T	ENSP00000489407.2:p.Ser636Ile
ENST00000262795.6:c.2855G>T	ENSP00000489147.2:p.Ser952Ile
ENST00000664402.1:c.1397G>T	ENSP00000499475.1:p.Ser466Ile
ENST00000673971.1:c.*1853G>T	ENSP00000501192.1:n.*1853G>T
ENST00000262795.5:c.3251G>T	ENSP00000489147.1:p.Ser1084Ile
ENST00000414786.6:n.3439G>T
ENST00000445220.5:c.3233G>T	ENSP00000489407.1:p.Ser1078Ile