Canonical Allele Identifier: CA515254874

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697575-C-T
• MyVariant Identifiers: chr22:g.51136003C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697575C>T , CM000684.2:g.50697575C>T	GRCh38
NC_000022.10:g.51136003C>T , CM000684.1:g.51136003C>T	GRCh37
NC_000022.9:g.49482869C>T	NCBI36
NG_008607.2:g.28221C>T
NG_070230.1:g.33440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.959C>T	ENSP00000489147.2:p.Pro320Leu
ENST00000414786.7:n.1543C>T
ENST00000445220.7:c.11C>T	ENSP00000489407.2:p.Pro4Leu
ENST00000673971.2:c.1316C>T	ENSP00000501192.1:p.Pro439Leu
ENST00000445220.6:c.11C>T	ENSP00000489407.2:p.Pro4Leu
ENST00000262795.6:c.959C>T	ENSP00000489147.2:p.Pro320Leu
ENST00000673971.1:c.1316C>T	ENSP00000501192.1:p.Pro439Leu
ENST00000673995.1:c.12C>T
ENST00000262795.5:c.1355C>T	ENSP00000489147.1:p.Pro452Leu
ENST00000414786.6:n.1543C>T
ENST00000445220.5:c.1337C>T	ENSP00000489407.1:p.Pro446Leu