Canonical Allele Identifier: CA515262339

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721421-C-T
• MyVariant Identifiers: chr22:g.51159849C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721421C>T , CM000684.2:g.50721421C>T	GRCh38
NC_000022.10:g.51159849C>T , CM000684.1:g.51159849C>T	GRCh37
NC_000022.9:g.49506715C>T	NCBI36
NG_008607.2:g.52067C>T
NG_070230.1:g.57205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3189C>T	ENSP00000489147.2:p.Leu1063=
ENST00000414786.7:n.3773C>T
ENST00000445220.7:c.2241C>T	ENSP00000489407.2:p.Leu747=
ENST00000664402.2:c.1731C>T	ENSP00000499475.1:p.Leu577=
ENST00000673971.2:c.*2187C>T	ENSP00000501192.1:n.*2187C>T
ENST00000445220.6:c.2241C>T	ENSP00000489407.2:p.Leu747=
ENST00000262795.6:c.3189C>T	ENSP00000489147.2:p.Leu1063=
ENST00000664402.1:c.1731C>T	ENSP00000499475.1:p.Leu577=
ENST00000673971.1:c.*2187C>T	ENSP00000501192.1:n.*2187C>T
ENST00000262795.5:c.3585C>T	ENSP00000489147.1:p.Leu1195=
ENST00000414786.6:n.3773C>T
ENST00000445220.5:c.3567C>T	ENSP00000489407.1:p.Leu1189=