Canonical Allele Identifier: CA349988627
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 986332
ClinVar RCV Id: RCV001420134
dbSNP Id: rs1278475785
MyVariant Identifiers: chr2:g.190430142A>G (hg19) chr2:g.189565416A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565416A>G , CM000664.2:g.189565416A>G GRCh38
NC_000002.11:g.190430142A>G , CM000664.1:g.190430142A>G GRCh37
NC_000002.10:g.190138387A>G NCBI36
NG_009027.1:g.20396T>C , LRG_837:g.20396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.698T>C MANE Select ENSP00000261024.3:p.Leu233Pro
ENST00000261024.6:c.698T>C ENSP00000261024.2:p.Leu233Pro
NM_014585.5:c.698T>C , LRG_837t1:c.698T>C NP_055400.1:p.Leu233Pro
XM_005246505.1:c.578T>C XP_005246562.1:p.Leu193Pro
XM_005246505.2:c.578T>C XP_005246562.1:p.Leu193Pro
XM_017003938.2:c.578T>C XP_016859427.1:p.Leu193Pro
NM_014585.6:c.698T>C MANE Select NP_055400.1:p.Leu233Pro
Search 100 bp 5'
Search 100 bp 3'