Canonical Allele Identifier: CA349989059
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189571723-T-G
MyVariant Identifiers: chr2:g.190436449T>G (hg19) chr2:g.189571723T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571723T>G , CM000664.2:g.189571723T>G GRCh38
NC_000002.11:g.190436449T>G , CM000664.1:g.190436449T>G GRCh37
NC_000002.10:g.190144694T>G NCBI36
NG_009027.1:g.14089A>C , LRG_837:g.14089A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.506A>C MANE Select ENSP00000261024.3:p.Lys169Thr
ENST00000261024.6:c.506A>C ENSP00000261024.2:p.Lys169Thr
ENST00000427241.5:c.506A>C ENSP00000390005.1:p.Lys169Thr
NM_014585.5:c.506A>C , LRG_837t1:c.506A>C NP_055400.1:p.Lys169Thr
XM_005246505.1:c.386A>C XP_005246562.1:p.Lys129Thr
XM_005246505.2:c.386A>C XP_005246562.1:p.Lys129Thr
XM_017003938.2:c.386A>C XP_016859427.1:p.Lys129Thr
NM_014585.6:c.506A>C MANE Select NP_055400.1:p.Lys169Thr
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