Canonical Allele Identifier: CA349987841
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 986320
ClinVar RCV Id: RCV001420122
dbSNP Id: rs1553493234
MyVariant Identifiers: chr2:g.190428663G>A (hg19) chr2:g.189563937G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563937G>A , CM000664.2:g.189563937G>A GRCh38
NC_000002.11:g.190428663G>A , CM000664.1:g.190428663G>A GRCh37
NC_000002.10:g.190136908G>A NCBI36
NG_009027.1:g.21875C>T , LRG_837:g.21875C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1049C>T MANE Select ENSP00000261024.3:p.Ala350Val
ENST00000261024.6:c.1049C>T ENSP00000261024.2:p.Ala350Val
NM_014585.5:c.1049C>T , LRG_837t1:c.1049C>T NP_055400.1:p.Ala350Val
XM_005246505.1:c.929C>T XP_005246562.1:p.Ala310Val
XM_005246505.2:c.929C>T XP_005246562.1:p.Ala310Val
XM_017003938.2:c.929C>T XP_016859427.1:p.Ala310Val
NM_014585.6:c.1049C>T MANE Select NP_055400.1:p.Ala350Val
Search 100 bp 5'
Search 100 bp 3'