Canonical Allele Identifier: CA515255003

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697619-T-C
• MyVariant Identifiers: chr22:g.51136047T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697619T>C , CM000684.2:g.50697619T>C	GRCh38
NC_000022.10:g.51136047T>C , CM000684.1:g.51136047T>C	GRCh37
NC_000022.9:g.49482913T>C	NCBI36
NG_008607.2:g.28265T>C
NG_070230.1:g.33484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1003T>C	ENSP00000489147.2:p.Tyr335His
ENST00000414786.7:n.1587T>C
ENST00000445220.7:c.55T>C	ENSP00000489407.2:p.Tyr19His
ENST00000673971.2:c.1360T>C	ENSP00000501192.1:p.Tyr454His
ENST00000445220.6:c.55T>C	ENSP00000489407.2:p.Tyr19His
ENST00000262795.6:c.1003T>C	ENSP00000489147.2:p.Tyr335His
ENST00000673971.1:c.1360T>C	ENSP00000501192.1:p.Tyr454His
ENST00000673995.1:c.56T>C
ENST00000262795.5:c.1399T>C	ENSP00000489147.1:p.Tyr467His
ENST00000414786.6:n.1587T>C
ENST00000445220.5:c.1381T>C	ENSP00000489407.1:p.Tyr461His