Canonical Allele Identifier: CA117529
Gene: SLC40A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189564186C>T
GRCh37 chr2:g.190428912C>T
Revel Score:
ENST00000261024 (MANE Select) 0.646
ENST00000544056 0.646
gnomAD v2:
2:190428912 C / T
gnomAD v3:
2:189564186 C / T
gnomAD v4:
chr2-189564186-C-T
Joint Max Group AF 0.00012016 (EAS)
Exomes Max Group AF 0.00013578 (EAS)
ClinVar RCV:
RCV000005751
ClinVar Variation:
5418
dbSNP:
104893664
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564186C>T , CM000664.2:g.189564186C>T GRCh38
NC_000002.11:g.190428912C>T , CM000664.1:g.190428912C>T GRCh37
NC_000002.10:g.190137157C>T NCBI36
NG_009027.1:g.21626G>A , LRG_837:g.21626G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.800G>A MANE Select ENSP00000261024.3:p.Gly267Asp
ENST00000261024.6:c.800G>A ENSP00000261024.2:p.Gly267Asp
NM_014585.5:c.800G>A , LRG_837t1:c.800G>A NP_055400.1:p.Gly267Asp
XM_005246505.1:c.680G>A XP_005246562.1:p.Gly227Asp
XM_005246505.2:c.680G>A XP_005246562.1:p.Gly227Asp
XM_017003938.2:c.680G>A XP_016859427.1:p.Gly227Asp
NM_014585.6:c.800G>A MANE Select NP_055400.1:p.Gly267Asp
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