Canonical Allele Identifier: CA2024189
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951489
ClinVar RCV Id: RCV001223419
dbSNP Id: rs200018415
ExAC: 2:190430214 G / A
gnomAD v2: 2-190430214-G-A
gnomAD v3: 2-189565488-G-A
gnomAD v4: 2-189565488-G-A
MyVariant Identifiers: chr2:g.190430214G>A (hg19) chr2:g.189565488G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565488G>A , CM000664.2:g.189565488G>A GRCh38
NC_000002.11:g.190430214G>A , CM000664.1:g.190430214G>A GRCh37
NC_000002.10:g.190138459G>A NCBI36
NG_009027.1:g.20324C>T , LRG_837:g.20324C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.626C>T MANE Select ENSP00000261024.3:p.Ser209Leu
ENST00000261024.6:c.626C>T ENSP00000261024.2:p.Ser209Leu
NM_014585.5:c.626C>T , LRG_837t1:c.626C>T NP_055400.1:p.Ser209Leu
XM_005246505.1:c.506C>T XP_005246562.1:p.Ser169Leu
XM_005246505.2:c.506C>T XP_005246562.1:p.Ser169Leu
XM_017003938.2:c.506C>T XP_016859427.1:p.Ser169Leu
NM_014585.6:c.626C>T MANE Select NP_055400.1:p.Ser209Leu
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