Canonical Allele Identifier: CA16604003
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381730
ClinVar RCV Id: RCV003505111
dbSNP Id: rs1057521155
MyVariant Identifiers: chr2:g.190439895C>G (hg19) chr2:g.189575169C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575169C>G , CM000664.2:g.189575169C>G GRCh38
NC_000002.11:g.190439895C>G , CM000664.1:g.190439895C>G GRCh37
NC_000002.10:g.190148140C>G NCBI36
NG_009027.1:g.10643G>C , LRG_837:g.10643G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.263G>C MANE Select ENSP00000261024.3:p.Arg88Thr
ENST00000261024.6:c.263G>C ENSP00000261024.2:p.Arg88Thr
ENST00000418714.1:n.704G>C
ENST00000427241.5:c.263G>C ENSP00000390005.1:p.Arg88Thr
ENST00000479598.5:n.544G>C
NM_014585.5:c.263G>C , LRG_837t1:c.263G>C NP_055400.1:p.Arg88Thr
XM_005246505.1:c.143G>C XP_005246562.1:p.Arg48Thr
XM_005246505.2:c.143G>C XP_005246562.1:p.Arg48Thr
XM_017003938.2:c.143G>C XP_016859427.1:p.Arg48Thr
NM_014585.6:c.263G>C MANE Select NP_055400.1:p.Arg88Thr
Search 100 bp 5'
Search 100 bp 3'