Canonical Allele Identifier: CA515261138

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721093-G-T
• MyVariant Identifiers: chr22:g.51159521G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721093G>T , CM000684.2:g.50721093G>T	GRCh38
NC_000022.10:g.51159521G>T , CM000684.1:g.51159521G>T	GRCh37
NC_000022.9:g.49506387G>T	NCBI36
NG_008607.2:g.51739G>T
NG_070230.1:g.56877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2861G>T	ENSP00000489147.2:p.Gly954Val
ENST00000414786.7:n.3445G>T
ENST00000445220.7:c.1913G>T	ENSP00000489407.2:p.Gly638Val
ENST00000664402.2:c.1403G>T	ENSP00000499475.1:p.Gly468Val
ENST00000673971.2:c.*1859G>T	ENSP00000501192.1:n.*1859G>T
ENST00000445220.6:c.1913G>T	ENSP00000489407.2:p.Gly638Val
ENST00000262795.6:c.2861G>T	ENSP00000489147.2:p.Gly954Val
ENST00000664402.1:c.1403G>T	ENSP00000499475.1:p.Gly468Val
ENST00000673971.1:c.*1859G>T	ENSP00000501192.1:n.*1859G>T
ENST00000262795.5:c.3257G>T	ENSP00000489147.1:p.Gly1086Val
ENST00000414786.6:n.3445G>T
ENST00000445220.5:c.3239G>T	ENSP00000489407.1:p.Gly1080Val