Canonical Allele Identifier: CA2662328915
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189565221-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565221A>C , CM000664.2:g.189565221A>C GRCh38
NC_000002.11:g.190429947A>C , CM000664.1:g.190429947A>C GRCh37
NC_000002.10:g.190138192A>C NCBI36
NG_009027.1:g.20591T>G , LRG_837:g.20591T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.760+133T>G MANE Select ENSP00000261024.3:n.760+133T>G
ENST00000261024.6:c.760+133T>G ENSP00000261024.2:n.760+133T>G
NM_014585.5:c.760+133T>G , LRG_837t1:c.760+133T>G NP_055400.1:n.760+133T>G
XM_005246505.1:c.640+133T>G XP_005246562.1:n.640+133T>G
XM_005246505.2:c.640+133T>G XP_005246562.1:n.640+133T>G
XM_017003938.2:c.640+133T>G XP_016859427.1:n.640+133T>G
NM_014585.6:c.760+133T>G MANE Select NP_055400.1:n.760+133T>G
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