Canonical Allele Identifier: CA515262193

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721375-C-T
• MyVariant Identifiers: chr22:g.51159803C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721375C>T , CM000684.2:g.50721375C>T	GRCh38
NC_000022.10:g.51159803C>T , CM000684.1:g.51159803C>T	GRCh37
NC_000022.9:g.49506669C>T	NCBI36
NG_008607.2:g.52021C>T
NG_070230.1:g.57159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3143C>T	ENSP00000489147.2:p.Pro1048Leu
ENST00000414786.7:n.3727C>T
ENST00000445220.7:c.2195C>T	ENSP00000489407.2:p.Pro732Leu
ENST00000664402.2:c.1685C>T	ENSP00000499475.1:p.Pro562Leu
ENST00000673971.2:c.*2141C>T	ENSP00000501192.1:n.*2141C>T
ENST00000445220.6:c.2195C>T	ENSP00000489407.2:p.Pro732Leu
ENST00000262795.6:c.3143C>T	ENSP00000489147.2:p.Pro1048Leu
ENST00000664402.1:c.1685C>T	ENSP00000499475.1:p.Pro562Leu
ENST00000673971.1:c.*2141C>T	ENSP00000501192.1:n.*2141C>T
ENST00000262795.5:c.3539C>T	ENSP00000489147.1:p.Pro1180Leu
ENST00000414786.6:n.3727C>T
ENST00000445220.5:c.3521C>T	ENSP00000489407.1:p.Pro1174Leu