Canonical Allele Identifier: CA515254906

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697586-G-T
• MyVariant Identifiers: chr22:g.51136014G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697586G>T , CM000684.2:g.50697586G>T	GRCh38
NC_000022.10:g.51136014G>T , CM000684.1:g.51136014G>T	GRCh37
NC_000022.9:g.49482880G>T	NCBI36
NG_008607.2:g.28232G>T
NG_070230.1:g.33451G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.970G>T	ENSP00000489147.2:p.Ala324Ser
ENST00000414786.7:n.1554G>T
ENST00000445220.7:c.22G>T	ENSP00000489407.2:p.Ala8Ser
ENST00000673971.2:c.1327G>T	ENSP00000501192.1:p.Ala443Ser
ENST00000445220.6:c.22G>T	ENSP00000489407.2:p.Ala8Ser
ENST00000262795.6:c.970G>T	ENSP00000489147.2:p.Ala324Ser
ENST00000673971.1:c.1327G>T	ENSP00000501192.1:p.Ala443Ser
ENST00000673995.1:c.23G>T
ENST00000262795.5:c.1366G>T	ENSP00000489147.1:p.Ala456Ser
ENST00000414786.6:n.1554G>T
ENST00000445220.5:c.1348G>T	ENSP00000489407.1:p.Ala450Ser