Canonical Allele Identifier: CA349988309
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030851204
gnomAD v4: 2-189564149-C-G
MyVariant Identifiers: chr2:g.190428875C>G (hg19) chr2:g.189564149C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.837G>C MANE Select ENSP00000261024.3:p.Glu279Asp
ENST00000261024.6:c.837G>C ENSP00000261024.2:p.Glu279Asp
NM_014585.5:c.837G>C , LRG_837t1:c.837G>C NP_055400.1:p.Glu279Asp
XM_005246505.1:c.717G>C XP_005246562.1:p.Glu239Asp
XM_005246505.2:c.717G>C XP_005246562.1:p.Glu239Asp
XM_017003938.2:c.717G>C XP_016859427.1:p.Glu239Asp
NM_014585.6:c.837G>C MANE Select NP_055400.1:p.Glu279Asp
Search 100 bp 5'
Search 100 bp 3'