Canonical Allele Identifier: CA515261768

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083285631
• gnomAD v3: 22-50721311-G-A
• gnomAD v4: 22-50721311-G-A
• MyVariant Identifiers: chr22:g.51159739G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721311G>A , CM000684.2:g.50721311G>A	GRCh38
NC_000022.10:g.51159739G>A , CM000684.1:g.51159739G>A	GRCh37
NC_000022.9:g.49506605G>A	NCBI36
NG_008607.2:g.51957G>A
NG_070230.1:g.57095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3079G>A	ENSP00000489147.2:p.Ala1027Thr
ENST00000414786.7:n.3663G>A
ENST00000445220.7:c.2131G>A	ENSP00000489407.2:p.Ala711Thr
ENST00000664402.2:c.1621G>A	ENSP00000499475.1:p.Ala541Thr
ENST00000673971.2:c.*2077G>A	ENSP00000501192.1:n.*2077G>A
ENST00000445220.6:c.2131G>A	ENSP00000489407.2:p.Ala711Thr
ENST00000262795.6:c.3079G>A	ENSP00000489147.2:p.Ala1027Thr
ENST00000664402.1:c.1621G>A	ENSP00000499475.1:p.Ala541Thr
ENST00000673971.1:c.*2077G>A	ENSP00000501192.1:n.*2077G>A
ENST00000262795.5:c.3475G>A	ENSP00000489147.1:p.Ala1159Thr
ENST00000414786.6:n.3663G>A
ENST00000445220.5:c.3457G>A	ENSP00000489407.1:p.Ala1153Thr