Canonical Allele Identifier: CA515255071

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697644-T-A
• MyVariant Identifiers: chr22:g.51136072T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697644T>A , CM000684.2:g.50697644T>A	GRCh38
NC_000022.10:g.51136072T>A , CM000684.1:g.51136072T>A	GRCh37
NC_000022.9:g.49482938T>A	NCBI36
NG_008607.2:g.28290T>A
NG_070230.1:g.33509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1028T>A	ENSP00000489147.2:p.Phe343Tyr
ENST00000414786.7:n.1612T>A
ENST00000445220.7:c.80T>A	ENSP00000489407.2:p.Phe27Tyr
ENST00000673971.2:c.1385T>A	ENSP00000501192.1:p.Phe462Tyr
ENST00000445220.6:c.80T>A	ENSP00000489407.2:p.Phe27Tyr
ENST00000262795.6:c.1028T>A	ENSP00000489147.2:p.Phe343Tyr
ENST00000673971.1:c.1385T>A	ENSP00000501192.1:p.Phe462Tyr
ENST00000673995.1:c.81T>A
ENST00000262795.5:c.1424T>A	ENSP00000489147.1:p.Phe475Tyr
ENST00000414786.6:n.1612T>A
ENST00000445220.5:c.1406T>A	ENSP00000489407.1:p.Phe469Tyr