Canonical Allele Identifier: CA349987176
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs1456036519
gnomAD v2: 2-190428343-G-T
gnomAD v3: 2-189563617-G-T
gnomAD v4: 2-189563617-G-T
MyVariant Identifiers: chr2:g.190428343G>T (hg19) chr2:g.189563617G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563617G>T , CM000664.2:g.189563617G>T GRCh38
NC_000002.11:g.190428343G>T , CM000664.1:g.190428343G>T GRCh37
NC_000002.10:g.190136588G>T NCBI36
NG_009027.1:g.22195C>A , LRG_837:g.22195C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1369C>A MANE Select ENSP00000261024.3:p.Leu457Met
ENST00000261024.6:c.1369C>A ENSP00000261024.2:p.Leu457Met
NM_014585.5:c.1369C>A , LRG_837t1:c.1369C>A NP_055400.1:p.Leu457Met
XM_005246505.1:c.1249C>A XP_005246562.1:p.Leu417Met
XM_005246505.2:c.1249C>A XP_005246562.1:p.Leu417Met
XM_017003938.2:c.1249C>A XP_016859427.1:p.Leu417Met
NM_014585.6:c.1369C>A MANE Select NP_055400.1:p.Leu457Met
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