Canonical Allele Identifier: CA430502470
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030905254
MyVariant Identifiers: chr2:g.190430132T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565406T>C , CM000664.2:g.189565406T>C GRCh38
NC_000002.11:g.190430132T>C , CM000664.1:g.190430132T>C GRCh37
NC_000002.10:g.190138377T>C NCBI36
NG_009027.1:g.20406A>G , LRG_837:g.20406A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.708A>G MANE Select ENSP00000261024.3:p.Lys236=
ENST00000261024.6:c.708A>G ENSP00000261024.2:p.Lys236=
NM_014585.5:c.708A>G , LRG_837t1:c.708A>G NP_055400.1:p.Lys236=
XM_005246505.1:c.588A>G XP_005246562.1:p.Lys196=
XM_005246505.2:c.588A>G XP_005246562.1:p.Lys196=
XM_017003938.2:c.588A>G XP_016859427.1:p.Lys196=
NM_014585.6:c.708A>G MANE Select NP_055400.1:p.Lys236=
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