Canonical Allele Identifier: CA2024289
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2757827
ClinVar RCV Id: RCV003504923
dbSNP Id: rs778656312
ExAC: 2:190440023 C / T
gnomAD v2: 2-190440023-C-T
gnomAD v3: 2-189575297-C-T
gnomAD v4: 2-189575297-C-T
MyVariant Identifiers: chr2:g.190440023C>T (hg19) chr2:g.189575297C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575297C>T , CM000664.2:g.189575297C>T GRCh38
NC_000002.11:g.190440023C>T , CM000664.1:g.190440023C>T GRCh37
NC_000002.10:g.190148268C>T NCBI36
NG_009027.1:g.10515G>A , LRG_837:g.10515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.135G>A MANE Select ENSP00000261024.3:p.Ala45=
ENST00000261024.6:c.135G>A ENSP00000261024.2:p.Ala45=
ENST00000418714.1:n.576G>A
ENST00000427241.5:c.135G>A ENSP00000390005.1:p.Ala45=
ENST00000455320.5:c.135G>A ENSP00000413549.1:p.Ala45=
ENST00000479598.5:n.416G>A
NM_014585.5:c.135G>A , LRG_837t1:c.135G>A NP_055400.1:p.Ala45=
XM_005246505.1:c.15G>A XP_005246562.1:p.Ala5=
XM_005246505.2:c.15G>A XP_005246562.1:p.Ala5=
XM_017003938.2:c.15G>A XP_016859427.1:p.Ala5=
NM_014585.6:c.135G>A MANE Select NP_055400.1:p.Ala45=
Search 100 bp 5'
Search 100 bp 3'