Canonical Allele Identifier: CA515263702

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721854-C-T
• MyVariant Identifiers: chr22:g.51160282C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721854C>T , CM000684.2:g.50721854C>T	GRCh38
NC_000022.10:g.51160282C>T , CM000684.1:g.51160282C>T	GRCh37
NC_000022.9:g.49507148C>T	NCBI36
NG_008607.2:g.52500C>T
NG_070230.1:g.57638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3622C>T	ENSP00000489147.2:p.Pro1208Ser
ENST00000414786.7:n.4206C>T
ENST00000445220.7:c.2674C>T	ENSP00000489407.2:p.Pro892Ser
ENST00000664402.2:c.2164C>T	ENSP00000499475.1:p.Pro722Ser
ENST00000673971.2:c.*2620C>T	ENSP00000501192.1:n.*2620C>T
ENST00000445220.6:c.2674C>T	ENSP00000489407.2:p.Pro892Ser
ENST00000262795.6:c.3622C>T	ENSP00000489147.2:p.Pro1208Ser
ENST00000664402.1:c.2164C>T	ENSP00000499475.1:p.Pro722Ser
ENST00000673971.1:c.*2620C>T	ENSP00000501192.1:n.*2620C>T
ENST00000262795.5:c.4018C>T	ENSP00000489147.1:p.Pro1340Ser
ENST00000414786.6:n.4206C>T
ENST00000445220.5:c.4000C>T	ENSP00000489407.1:p.Pro1334Ser