Canonical Allele Identifier: CA2662329335
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189571653-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571653T>G , CM000664.2:g.189571653T>G GRCh38
NC_000002.11:g.190436379T>G , CM000664.1:g.190436379T>G GRCh37
NC_000002.10:g.190144624T>G NCBI36
NG_009027.1:g.14159A>C , LRG_837:g.14159A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.514+62A>C MANE Select ENSP00000261024.3:n.514+62A>C
ENST00000261024.6:c.514+62A>C ENSP00000261024.2:n.514+62A>C
ENST00000427241.5:c.514+62A>C ENSP00000390005.1:n.514+62A>C
NM_014585.5:c.514+62A>C , LRG_837t1:c.514+62A>C NP_055400.1:n.514+62A>C
XM_005246505.1:c.394+62A>C XP_005246562.1:n.394+62A>C
XM_005246505.2:c.394+62A>C XP_005246562.1:n.394+62A>C
XM_017003938.2:c.394+62A>C XP_016859427.1:n.394+62A>C
NM_014585.6:c.514+62A>C MANE Select NP_055400.1:n.514+62A>C
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