Canonical Allele Identifier: CA430502679
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030851204
gnomAD v4: 2-189564149-C-T
MyVariant Identifiers: chr2:g.190428875C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564149C>T , CM000664.2:g.189564149C>T GRCh38
NC_000002.11:g.190428875C>T , CM000664.1:g.190428875C>T GRCh37
NC_000002.10:g.190137120C>T NCBI36
NG_009027.1:g.21663G>A , LRG_837:g.21663G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.837G>A MANE Select ENSP00000261024.3:p.Glu279=
ENST00000261024.6:c.837G>A ENSP00000261024.2:p.Glu279=
NM_014585.5:c.837G>A , LRG_837t1:c.837G>A NP_055400.1:p.Glu279=
XM_005246505.1:c.717G>A XP_005246562.1:p.Glu239=
XM_005246505.2:c.717G>A XP_005246562.1:p.Glu239=
XM_017003938.2:c.717G>A XP_016859427.1:p.Glu239=
NM_014585.6:c.837G>A MANE Select NP_055400.1:p.Glu279=
Search 100 bp 5'
Search 100 bp 3'