Canonical Allele Identifier: CA515267309

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50731043-C-T
• MyVariant Identifiers: chr22:g.51169471C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731043C>T , CM000684.2:g.50731043C>T	GRCh38
NC_000022.10:g.51169471C>T , CM000684.1:g.51169471C>T	GRCh37
NC_000022.9:g.49516337C>T	NCBI36
NG_008607.2:g.61689C>T
NG_070230.1:g.66827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4555C>T	ENSP00000489147.2:p.Pro1519Ser
ENST00000414786.7:n.5139C>T
ENST00000445220.7:c.3607C>T	ENSP00000489407.2:p.Pro1203Ser
ENST00000664402.2:c.3097C>T	ENSP00000499475.1:p.Pro1033Ser
ENST00000673971.2:c.*3553C>T	ENSP00000501192.1:n.*3553C>T
ENST00000445220.6:c.3607C>T	ENSP00000489407.2:p.Pro1203Ser
ENST00000262795.6:c.4555C>T	ENSP00000489147.2:p.Pro1519Ser
ENST00000659388.1:c.370C>T	ENSP00000499632.1:p.Pro124Ser
ENST00000664402.1:c.3097C>T	ENSP00000499475.1:p.Pro1033Ser
ENST00000673971.1:c.*3553C>T	ENSP00000501192.1:n.*3553C>T
ENST00000262795.5:c.4924C>T	ENSP00000489147.1:p.Pro1642Ser
ENST00000414786.6:n.5139C>T
ENST00000445220.5:c.4906C>T	ENSP00000489407.1:p.Pro1636Ser