Canonical Allele Identifier: CA1399335
Gene: SLC30A10 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.219928157G>A
GRCh37 chr1:g.220101499G>A
Revel Score:
ENST00000366926 (MANE Select) 0.375
ENST00000536992 0.375
gnomAD v2:
1:220101499 G / A
gnomAD v3:
1:219928157 G / A
gnomAD v4:
chr1-219928157-G-A
Joint Max Group AF 0.00106108 (NFE)
Genomes Max Group AF 0.00091826 (AMR)
Exomes Max Group AF 0.00107779 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.219928157G>A , CM000663.2:g.219928157G>A GRCh38
NC_000001.10:g.220101499G>A , CM000663.1:g.220101499G>A GRCh37
NC_000001.9:g.218168122G>A NCBI36
NG_032153.1:g.5495C>T
NG_032153.2:g.5495C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696608.1:c.452-1052C>T ENSP00000512752.1:n.452-1052C>T
ENST00000366926.4:c.284C>T MANE Select ENSP00000355893.4:p.Thr95Ile
ENST00000356609.2:c.284C>T ENSP00000349018.2:p.Thr95Ile
ENST00000366926.3:c.284C>T ENSP00000355893.3:p.Thr95Ile
ENST00000484239.5:n.81-1052C>T
NM_018713.2:c.284C>T NP_061183.2:p.Thr95Ile
NR_046437.1:n.495C>T
XM_006711437.2:c.452-1052C>T XP_006711500.2:n.452-1052C>T
XM_011509727.1:c.-36+132C>T XP_011508029.1:n.-36+132C>T
XM_006711437.4:c.452-1052C>T XP_006711500.2:n.452-1052C>T
NM_001376929.1:c.452-1052C>T NP_001363858.1:n.452-1052C>T
NM_018713.3:c.284C>T MANE Select NP_061183.2:p.Thr95Ile
NR_046437.2:n.401C>T
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