Canonical Allele Identifier: CA349987548
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189563794-G-C
MyVariant Identifiers: chr2:g.190428520G>C (hg19) chr2:g.189563794G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563794G>C , CM000664.2:g.189563794G>C GRCh38
NC_000002.11:g.190428520G>C , CM000664.1:g.190428520G>C GRCh37
NC_000002.10:g.190136765G>C NCBI36
NG_009027.1:g.22018C>G , LRG_837:g.22018C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1192C>G MANE Select ENSP00000261024.3:p.Leu398Val
ENST00000261024.6:c.1192C>G ENSP00000261024.2:p.Leu398Val
NM_014585.5:c.1192C>G , LRG_837t1:c.1192C>G NP_055400.1:p.Leu398Val
XM_005246505.1:c.1072C>G XP_005246562.1:p.Leu358Val
XM_005246505.2:c.1072C>G XP_005246562.1:p.Leu358Val
XM_017003938.2:c.1072C>G XP_016859427.1:p.Leu358Val
NM_014585.6:c.1192C>G MANE Select NP_055400.1:p.Leu398Val
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