Canonical Allele Identifier: CA515255142

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083091748
• gnomAD v3: 22-50697668-C-T
• gnomAD v4: 22-50697668-C-T
• MyVariant Identifiers: chr22:g.51136096C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697668C>T , CM000684.2:g.50697668C>T	GRCh38
NC_000022.10:g.51136096C>T , CM000684.1:g.51136096C>T	GRCh37
NC_000022.9:g.49482962C>T	NCBI36
NG_008607.2:g.28314C>T
NG_070230.1:g.33533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1052C>T	ENSP00000489147.2:p.Pro351Leu
ENST00000414786.7:n.1636C>T
ENST00000445220.7:c.104C>T	ENSP00000489407.2:p.Pro35Leu
ENST00000673971.2:c.1409C>T	ENSP00000501192.1:p.Pro470Leu
ENST00000445220.6:c.104C>T	ENSP00000489407.2:p.Pro35Leu
ENST00000262795.6:c.1052C>T	ENSP00000489147.2:p.Pro351Leu
ENST00000673971.1:c.1409C>T	ENSP00000501192.1:p.Pro470Leu
ENST00000673995.1:c.105C>T
ENST00000262795.5:c.1448C>T	ENSP00000489147.1:p.Pro483Leu
ENST00000414786.6:n.1636C>T
ENST00000445220.5:c.1430C>T	ENSP00000489407.1:p.Pro477Leu