Canonical Allele Identifier: CA515260016

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720692-C-G
• MyVariant Identifiers: chr22:g.51159120C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720692C>G , CM000684.2:g.50720692C>G	GRCh38
NC_000022.10:g.51159120C>G , CM000684.1:g.51159120C>G	GRCh37
NC_000022.9:g.49505986C>G	NCBI36
NG_008607.2:g.51338C>G
NG_070230.1:g.56476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2460C>G	ENSP00000489147.2:p.Pro820=
ENST00000414786.7:n.3044C>G
ENST00000445220.7:c.1512C>G	ENSP00000489407.2:p.Pro504=
ENST00000664402.2:c.1002C>G	ENSP00000499475.1:p.Pro334=
ENST00000673971.2:c.*1458C>G	ENSP00000501192.1:n.*1458C>G
ENST00000445220.6:c.1512C>G	ENSP00000489407.2:p.Pro504=
ENST00000262795.6:c.2460C>G	ENSP00000489147.2:p.Pro820=
ENST00000664402.1:c.1002C>G	ENSP00000499475.1:p.Pro334=
ENST00000673971.1:c.*1458C>G	ENSP00000501192.1:n.*1458C>G
ENST00000262795.5:c.2856C>G	ENSP00000489147.1:p.Pro952=
ENST00000414786.6:n.3044C>G
ENST00000445220.5:c.2838C>G	ENSP00000489407.1:p.Pro946=