Canonical Allele Identifier: CA515255159

Gene: SHANK3

Linked Data

• dbSNP Id: rs1315540149
• gnomAD v3: 22-50697674-G-C
• gnomAD v4: 22-50697674-G-C
• MyVariant Identifiers: chr22:g.51136102G>C (hg19) ; chr22:g.50697674G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697674G>C , CM000684.2:g.50697674G>C	GRCh38
NC_000022.10:g.51136102G>C , CM000684.1:g.51136102G>C	GRCh37
NC_000022.9:g.49482968G>C	NCBI36
NG_008607.2:g.28320G>C
NG_070230.1:g.33539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1058G>C	ENSP00000489147.2:p.Gly353Ala
ENST00000414786.7:n.1642G>C
ENST00000445220.7:c.110G>C	ENSP00000489407.2:p.Gly37Ala
ENST00000673971.2:c.1415G>C	ENSP00000501192.1:p.Gly472Ala
ENST00000445220.6:c.110G>C	ENSP00000489407.2:p.Gly37Ala
ENST00000262795.6:c.1058G>C	ENSP00000489147.2:p.Gly353Ala
ENST00000673971.1:c.1415G>C	ENSP00000501192.1:p.Gly472Ala
ENST00000673995.1:c.111G>C
ENST00000262795.5:c.1454G>C	ENSP00000489147.1:p.Gly485Ala
ENST00000414786.6:n.1642G>C
ENST00000445220.5:c.1436G>C	ENSP00000489407.1:p.Gly479Ala