Canonical Allele Identifier: CA430502431
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030903625
gnomAD v4: 2-189565388-C-T
MyVariant Identifiers: chr2:g.190430114C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565388C>T , CM000664.2:g.189565388C>T GRCh38
NC_000002.11:g.190430114C>T , CM000664.1:g.190430114C>T GRCh37
NC_000002.10:g.190138359C>T NCBI36
NG_009027.1:g.20424G>A , LRG_837:g.20424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.726G>A MANE Select ENSP00000261024.3:p.Glu242=
ENST00000261024.6:c.726G>A ENSP00000261024.2:p.Glu242=
NM_014585.5:c.726G>A , LRG_837t1:c.726G>A NP_055400.1:p.Glu242=
XM_005246505.1:c.606G>A XP_005246562.1:p.Glu202=
XM_005246505.2:c.606G>A XP_005246562.1:p.Glu202=
XM_017003938.2:c.606G>A XP_016859427.1:p.Glu202=
NM_014585.6:c.726G>A MANE Select NP_055400.1:p.Glu242=
Search 100 bp 5'
Search 100 bp 3'