Canonical Allele Identifier: CA1040450109
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030895332
gnomAD v3: 2-189565215-C-G
gnomAD v4: 2-189565215-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565215C>G , CM000664.2:g.189565215C>G GRCh38
NC_000002.11:g.190429941C>G , CM000664.1:g.190429941C>G GRCh37
NC_000002.10:g.190138186C>G NCBI36
NG_009027.1:g.20597G>C , LRG_837:g.20597G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.760+139G>C MANE Select ENSP00000261024.3:n.760+139G>C
ENST00000261024.6:c.760+139G>C ENSP00000261024.2:n.760+139G>C
NM_014585.5:c.760+139G>C , LRG_837t1:c.760+139G>C NP_055400.1:n.760+139G>C
XM_005246505.1:c.640+139G>C XP_005246562.1:n.640+139G>C
XM_005246505.2:c.640+139G>C XP_005246562.1:n.640+139G>C
XM_017003938.2:c.640+139G>C XP_016859427.1:n.640+139G>C
NM_014585.6:c.760+139G>C MANE Select NP_055400.1:n.760+139G>C
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