Canonical Allele Identifier: CA430367238
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030829181
MyVariant Identifiers: chr2:g.190428392A>G (hg19)
PubMed: PMID:25363768
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563666A>G , CM000664.2:g.189563666A>G GRCh38
NC_000002.11:g.190428392A>G , CM000664.1:g.190428392A>G GRCh37
NC_000002.10:g.190136637A>G NCBI36
NG_009027.1:g.22146T>C , LRG_837:g.22146T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1320T>C MANE Select ENSP00000261024.3:p.Asn440=
ENST00000261024.6:c.1320T>C ENSP00000261024.2:p.Asn440=
NM_014585.5:c.1320T>C , LRG_837t1:c.1320T>C NP_055400.1:p.Asn440=
XM_005246505.1:c.1200T>C XP_005246562.1:p.Asn400=
XM_005246505.2:c.1200T>C XP_005246562.1:p.Asn400=
XM_017003938.2:c.1200T>C XP_016859427.1:p.Asn400=
NM_014585.6:c.1320T>C MANE Select NP_055400.1:p.Asn440=
Search 100 bp 5'
Search 100 bp 3'