Canonical Allele Identifier: CA2753594058
Gene: SLC40A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575141A>G , CM000664.2:g.189575141A>G GRCh38
NC_000002.11:g.190439867A>G , CM000664.1:g.190439867A>G GRCh37
NC_000002.10:g.190148112A>G NCBI36
NG_009027.1:g.10671T>C , LRG_837:g.10671T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.271+20T>C MANE Select ENSP00000261024.3:n.271+20T>C
ENST00000261024.6:c.271+20T>C ENSP00000261024.2:n.271+20T>C
ENST00000427241.5:c.271+20T>C ENSP00000390005.1:n.271+20T>C
ENST00000479598.5:n.552+20T>C
NM_014585.5:c.271+20T>C , LRG_837t1:c.271+20T>C NP_055400.1:n.271+20T>C
XM_005246505.1:c.151+20T>C XP_005246562.1:n.151+20T>C
XM_005246505.2:c.151+20T>C XP_005246562.1:n.151+20T>C
XM_017003938.2:c.151+20T>C XP_016859427.1:n.151+20T>C
NM_014585.6:c.271+20T>C MANE Select NP_055400.1:n.271+20T>C
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