Canonical Allele Identifier: CA515254980

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697611-G-T
• MyVariant Identifiers: chr22:g.51136039G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697611G>T , CM000684.2:g.50697611G>T	GRCh38
NC_000022.10:g.51136039G>T , CM000684.1:g.51136039G>T	GRCh37
NC_000022.9:g.49482905G>T	NCBI36
NG_008607.2:g.28257G>T
NG_070230.1:g.33476G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.995G>T	ENSP00000489147.2:p.Arg332Leu
ENST00000414786.7:n.1579G>T
ENST00000445220.7:c.47G>T	ENSP00000489407.2:p.Arg16Leu
ENST00000673971.2:c.1352G>T	ENSP00000501192.1:p.Arg451Leu
ENST00000445220.6:c.47G>T	ENSP00000489407.2:p.Arg16Leu
ENST00000262795.6:c.995G>T	ENSP00000489147.2:p.Arg332Leu
ENST00000673971.1:c.1352G>T	ENSP00000501192.1:p.Arg451Leu
ENST00000673995.1:c.48G>T
ENST00000262795.5:c.1391G>T	ENSP00000489147.1:p.Arg464Leu
ENST00000414786.6:n.1579G>T
ENST00000445220.5:c.1373G>T	ENSP00000489407.1:p.Arg458Leu