Canonical Allele Identifier: CA349987323
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2975559
ClinVar RCV Id: RCV003833645
dbSNP Id: rs1281190116

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563688G>A , CM000664.2:g.189563688G>A GRCh38
NC_000002.11:g.190428414G>A , CM000664.1:g.190428414G>A GRCh37
NC_000002.10:g.190136659G>A NCBI36
NG_009027.1:g.22124C>T , LRG_837:g.22124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1298C>T MANE Select ENSP00000261024.3:p.Ser433Phe
ENST00000261024.6:c.1298C>T ENSP00000261024.2:p.Ser433Phe
NM_014585.5:c.1298C>T , LRG_837t1:c.1298C>T NP_055400.1:p.Ser433Phe
XM_005246505.1:c.1178C>T XP_005246562.1:p.Ser393Phe
XM_005246505.2:c.1178C>T XP_005246562.1:p.Ser393Phe
XM_017003938.2:c.1178C>T XP_016859427.1:p.Ser393Phe
NM_014585.6:c.1298C>T MANE Select NP_055400.1:p.Ser433Phe