Canonical Allele Identifier: CA2024155
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2712885
ClinVar RCV Id: RCV003506018
dbSNP Id: rs751379313
ExAC: 2:190428970 A / T
gnomAD v2: 2-190428970-A-T
gnomAD v3: 2-189564244-A-T
gnomAD v4: 2-189564244-A-T
MyVariant Identifiers: chr2:g.190428970A>T (hg19) chr2:g.189564244A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564244A>T , CM000664.2:g.189564244A>T GRCh38
NC_000002.11:g.190428970A>T , CM000664.1:g.190428970A>T GRCh37
NC_000002.10:g.190137215A>T NCBI36
NG_009027.1:g.21568T>A , LRG_837:g.21568T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.761-19T>A MANE Select ENSP00000261024.3:n.761-19T>A
ENST00000261024.6:c.761-19T>A ENSP00000261024.2:n.761-19T>A
NM_014585.5:c.761-19T>A , LRG_837t1:c.761-19T>A NP_055400.1:n.761-19T>A
XM_005246505.1:c.641-19T>A XP_005246562.1:n.641-19T>A
XM_005246505.2:c.641-19T>A XP_005246562.1:n.641-19T>A
XM_017003938.2:c.641-19T>A XP_016859427.1:n.641-19T>A
NM_014585.6:c.761-19T>A MANE Select NP_055400.1:n.761-19T>A
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