Canonical Allele Identifier: CA2024174
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs775891910
ExAC: 2:190430130 G / A
gnomAD v2: 2-190430130-G-A
gnomAD v3: 2-189565404-G-A
gnomAD v4: 2-189565404-G-A
MyVariant Identifiers: chr2:g.190430130G>A (hg19) chr2:g.189565404G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565404G>A , CM000664.2:g.189565404G>A GRCh38
NC_000002.11:g.190430130G>A , CM000664.1:g.190430130G>A GRCh37
NC_000002.10:g.190138375G>A NCBI36
NG_009027.1:g.20408C>T , LRG_837:g.20408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.710C>T MANE Select ENSP00000261024.3:p.Ala237Val
ENST00000261024.6:c.710C>T ENSP00000261024.2:p.Ala237Val
NM_014585.5:c.710C>T , LRG_837t1:c.710C>T NP_055400.1:p.Ala237Val
XM_005246505.1:c.590C>T XP_005246562.1:p.Ala197Val
XM_005246505.2:c.590C>T XP_005246562.1:p.Ala197Val
XM_017003938.2:c.590C>T XP_016859427.1:p.Ala197Val
NM_014585.6:c.710C>T MANE Select NP_055400.1:p.Ala237Val
Search 100 bp 5'
Search 100 bp 3'