Canonical Allele Identifier: CA349987661
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428572C>A (hg19) chr2:g.189563846C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563846C>A , CM000664.2:g.189563846C>A GRCh38
NC_000002.11:g.190428572C>A , CM000664.1:g.190428572C>A GRCh37
NC_000002.10:g.190136817C>A NCBI36
NG_009027.1:g.21966G>T , LRG_837:g.21966G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1140G>T MANE Select ENSP00000261024.3:p.Gln380His
ENST00000261024.6:c.1140G>T ENSP00000261024.2:p.Gln380His
NM_014585.5:c.1140G>T , LRG_837t1:c.1140G>T NP_055400.1:p.Gln380His
XM_005246505.1:c.1020G>T XP_005246562.1:p.Gln340His
XM_005246505.2:c.1020G>T XP_005246562.1:p.Gln340His
XM_017003938.2:c.1020G>T XP_016859427.1:p.Gln340His
NM_014585.6:c.1140G>T MANE Select NP_055400.1:p.Gln380His
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