Canonical Allele Identifier: CA515255095

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697652-G-T
• MyVariant Identifiers: chr22:g.51136080G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697652G>T , CM000684.2:g.50697652G>T	GRCh38
NC_000022.10:g.51136080G>T , CM000684.1:g.51136080G>T	GRCh37
NC_000022.9:g.49482946G>T	NCBI36
NG_008607.2:g.28298G>T
NG_070230.1:g.33517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1036G>T	ENSP00000489147.2:p.Val346Leu
ENST00000414786.7:n.1620G>T
ENST00000445220.7:c.88G>T	ENSP00000489407.2:p.Val30Leu
ENST00000673971.2:c.1393G>T	ENSP00000501192.1:p.Val465Leu
ENST00000445220.6:c.88G>T	ENSP00000489407.2:p.Val30Leu
ENST00000262795.6:c.1036G>T	ENSP00000489147.2:p.Val346Leu
ENST00000673971.1:c.1393G>T	ENSP00000501192.1:p.Val465Leu
ENST00000673995.1:c.89G>T
ENST00000262795.5:c.1432G>T	ENSP00000489147.1:p.Val478Leu
ENST00000414786.6:n.1620G>T
ENST00000445220.5:c.1414G>T	ENSP00000489407.1:p.Val472Leu