Canonical Allele Identifier: CA515261829

Gene: SHANK3

Linked Data

• dbSNP Id: rs1194647115
• gnomAD v2: 22-51159755-G-A
• gnomAD v4: 22-50721327-G-A
• MyVariant Identifiers: chr22:g.51159755G>A (hg19) ; chr22:g.50721327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721327G>A , CM000684.2:g.50721327G>A	GRCh38
NC_000022.10:g.51159755G>A , CM000684.1:g.51159755G>A	GRCh37
NC_000022.9:g.49506621G>A	NCBI36
NG_008607.2:g.51973G>A
NG_070230.1:g.57111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3095G>A	ENSP00000489147.2:p.Ser1032Asn
ENST00000414786.7:n.3679G>A
ENST00000445220.7:c.2147G>A	ENSP00000489407.2:p.Ser716Asn
ENST00000664402.2:c.1637G>A	ENSP00000499475.1:p.Ser546Asn
ENST00000673971.2:c.*2093G>A	ENSP00000501192.1:n.*2093G>A
ENST00000445220.6:c.2147G>A	ENSP00000489407.2:p.Ser716Asn
ENST00000262795.6:c.3095G>A	ENSP00000489147.2:p.Ser1032Asn
ENST00000664402.1:c.1637G>A	ENSP00000499475.1:p.Ser546Asn
ENST00000673971.1:c.*2093G>A	ENSP00000501192.1:n.*2093G>A
ENST00000262795.5:c.3491G>A	ENSP00000489147.1:p.Ser1164Asn
ENST00000414786.6:n.3679G>A
ENST00000445220.5:c.3473G>A	ENSP00000489407.1:p.Ser1158Asn