Canonical Allele Identifier: CA515258914

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720318-T-C
• MyVariant Identifiers: chr22:g.51158746T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720318T>C , CM000684.2:g.50720318T>C	GRCh38
NC_000022.10:g.51158746T>C , CM000684.1:g.51158746T>C	GRCh37
NC_000022.9:g.49505612T>C	NCBI36
NG_008607.2:g.50964T>C
NG_070230.1:g.56102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2086T>C	ENSP00000489147.2:p.Tyr696His
ENST00000414786.7:n.2670T>C
ENST00000445220.7:c.1138T>C	ENSP00000489407.2:p.Tyr380His
ENST00000664402.2:c.628T>C	ENSP00000499475.1:p.Tyr210His
ENST00000673971.2:c.*1084T>C	ENSP00000501192.1:n.*1084T>C
ENST00000445220.6:c.1138T>C	ENSP00000489407.2:p.Tyr380His
ENST00000262795.6:c.2086T>C	ENSP00000489147.2:p.Tyr696His
ENST00000664402.1:c.628T>C	ENSP00000499475.1:p.Tyr210His
ENST00000673971.1:c.*1084T>C	ENSP00000501192.1:n.*1084T>C
ENST00000262795.5:c.2482T>C	ENSP00000489147.1:p.Tyr828His
ENST00000414786.6:n.2670T>C
ENST00000445220.5:c.2464T>C	ENSP00000489407.1:p.Tyr822His