Canonical Allele Identifier: CA342757

Gene: SLC30A10

Linked Data

• ClinVar Variation Id: 30886
• ClinVar RCV Id: RCV000023871
• dbSNP Id: rs281860284
• MyVariant Identifiers: chr1:g.220101517A>G (hg19) ; chr1:g.219928175A>G (hg38)
• PubMed: PMID:22341972 ; PMID:22934317

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.219928175A>G , CM000663.2:g.219928175A>G	GRCh38
NC_000001.10:g.220101517A>G , CM000663.1:g.220101517A>G	GRCh37
NC_000001.9:g.218168140A>G	NCBI36
NG_032153.1:g.5477T>C
NG_032153.2:g.5477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696608.1:c.452-1070T>C	ENSP00000512752.1:n.452-1070T>C
ENST00000366926.4:c.266T>C MANE Select	ENSP00000355893.4:p.Leu89Pro
ENST00000356609.2:c.266T>C	ENSP00000349018.2:p.Leu89Pro
ENST00000366926.3:c.266T>C	ENSP00000355893.3:p.Leu89Pro
ENST00000484239.5:n.81-1070T>C
NM_018713.2:c.266T>C	NP_061183.2:p.Leu89Pro
NR_046437.1:n.477T>C
XM_006711437.2:c.452-1070T>C	XP_006711500.2:n.452-1070T>C
XM_011509727.1:c.-36+114T>C	XP_011508029.1:n.-36+114T>C
XM_006711437.4:c.452-1070T>C	XP_006711500.2:n.452-1070T>C
NM_001376929.1:c.452-1070T>C	NP_001363858.1:n.452-1070T>C
NM_018713.3:c.266T>C MANE Select	NP_061183.2:p.Leu89Pro
NR_046437.2:n.383T>C