Canonical Allele Identifier: CA515260734

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159371G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720943G>C , CM000684.2:g.50720943G>C	GRCh38
NC_000022.10:g.51159371G>C , CM000684.1:g.51159371G>C	GRCh37
NC_000022.9:g.49506237G>C	NCBI36
NG_008607.2:g.51589G>C
NG_070230.1:g.56727G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2711G>C	ENSP00000489147.2:p.Gly904Ala
ENST00000414786.7:n.3295G>C
ENST00000445220.7:c.1763G>C	ENSP00000489407.2:p.Gly588Ala
ENST00000664402.2:c.1253G>C	ENSP00000499475.1:p.Gly418Ala
ENST00000673971.2:c.*1709G>C	ENSP00000501192.1:n.*1709G>C
ENST00000445220.6:c.1763G>C	ENSP00000489407.2:p.Gly588Ala
ENST00000262795.6:c.2711G>C	ENSP00000489147.2:p.Gly904Ala
ENST00000664402.1:c.1253G>C	ENSP00000499475.1:p.Gly418Ala
ENST00000673971.1:c.*1709G>C	ENSP00000501192.1:n.*1709G>C
ENST00000262795.5:c.3107G>C	ENSP00000489147.1:p.Gly1036Ala
ENST00000414786.6:n.3295G>C
ENST00000445220.5:c.3089G>C	ENSP00000489407.1:p.Gly1030Ala