Canonical Allele Identifier: CA349987992
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047852
ClinVar RCV Id: RCV002918354
dbSNP Id: rs2030845781

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564007T>C , CM000664.2:g.189564007T>C GRCh38
NC_000002.11:g.190428733T>C , CM000664.1:g.190428733T>C GRCh37
NC_000002.10:g.190136978T>C NCBI36
NG_009027.1:g.21805A>G , LRG_837:g.21805A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.979A>G MANE Select ENSP00000261024.3:p.Ile327Val
ENST00000261024.6:c.979A>G ENSP00000261024.2:p.Ile327Val
NM_014585.5:c.979A>G , LRG_837t1:c.979A>G NP_055400.1:p.Ile327Val
XM_005246505.1:c.859A>G XP_005246562.1:p.Ile287Val
XM_005246505.2:c.859A>G XP_005246562.1:p.Ile287Val
XM_017003938.2:c.859A>G XP_016859427.1:p.Ile287Val
NM_014585.6:c.979A>G MANE Select NP_055400.1:p.Ile327Val