Canonical Allele Identifier: CA515261843

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721330-C-T
• MyVariant Identifiers: chr22:g.51159758C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721330C>T , CM000684.2:g.50721330C>T	GRCh38
NC_000022.10:g.51159758C>T , CM000684.1:g.51159758C>T	GRCh37
NC_000022.9:g.49506624C>T	NCBI36
NG_008607.2:g.51976C>T
NG_070230.1:g.57114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3098C>T	ENSP00000489147.2:p.Pro1033Leu
ENST00000414786.7:n.3682C>T
ENST00000445220.7:c.2150C>T	ENSP00000489407.2:p.Pro717Leu
ENST00000664402.2:c.1640C>T	ENSP00000499475.1:p.Pro547Leu
ENST00000673971.2:c.*2096C>T	ENSP00000501192.1:n.*2096C>T
ENST00000445220.6:c.2150C>T	ENSP00000489407.2:p.Pro717Leu
ENST00000262795.6:c.3098C>T	ENSP00000489147.2:p.Pro1033Leu
ENST00000664402.1:c.1640C>T	ENSP00000499475.1:p.Pro547Leu
ENST00000673971.1:c.*2096C>T	ENSP00000501192.1:n.*2096C>T
ENST00000262795.5:c.3494C>T	ENSP00000489147.1:p.Pro1165Leu
ENST00000414786.6:n.3682C>T
ENST00000445220.5:c.3476C>T	ENSP00000489407.1:p.Pro1159Leu