Canonical Allele Identifier: CA2024143
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs368420430
ExAC: 2:190428903 T / G
gnomAD v2: 2-190428903-T-G
gnomAD v3: 2-189564177-T-G
gnomAD v4: 2-189564177-T-G
MyVariant Identifiers: chr2:g.190428903T>G (hg19) chr2:g.189564177T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564177T>G , CM000664.2:g.189564177T>G GRCh38
NC_000002.11:g.190428903T>G , CM000664.1:g.190428903T>G GRCh37
NC_000002.10:g.190137148T>G NCBI36
NG_009027.1:g.21635A>C , LRG_837:g.21635A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.809A>C MANE Select ENSP00000261024.3:p.Asp270Ala
ENST00000261024.6:c.809A>C ENSP00000261024.2:p.Asp270Ala
NM_014585.5:c.809A>C , LRG_837t1:c.809A>C NP_055400.1:p.Asp270Ala
XM_005246505.1:c.689A>C XP_005246562.1:p.Asp230Ala
XM_005246505.2:c.689A>C XP_005246562.1:p.Asp230Ala
XM_017003938.2:c.689A>C XP_016859427.1:p.Asp230Ala
NM_014585.6:c.809A>C MANE Select NP_055400.1:p.Asp270Ala
Search 100 bp 5'
Search 100 bp 3'