Canonical Allele Identifier: CA430502419
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734595
ClinVar RCV Id: RCV003506551
gnomAD v4: 2-189565378-A-G
MyVariant Identifiers: chr2:g.190430104A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565378A>G , CM000664.2:g.189565378A>G GRCh38
NC_000002.11:g.190430104A>G , CM000664.1:g.190430104A>G GRCh37
NC_000002.10:g.190138349A>G NCBI36
NG_009027.1:g.20434T>C , LRG_837:g.20434T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.736T>C MANE Select ENSP00000261024.3:p.Leu246=
ENST00000261024.6:c.736T>C ENSP00000261024.2:p.Leu246=
NM_014585.5:c.736T>C , LRG_837t1:c.736T>C NP_055400.1:p.Leu246=
XM_005246505.1:c.616T>C XP_005246562.1:p.Leu206=
XM_005246505.2:c.616T>C XP_005246562.1:p.Leu206=
XM_017003938.2:c.616T>C XP_016859427.1:p.Leu206=
NM_014585.6:c.736T>C MANE Select NP_055400.1:p.Leu246=
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