Canonical Allele Identifier: CA349988504
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030901194

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565360G>T , CM000664.2:g.189565360G>T GRCh38
NC_000002.11:g.190430086G>T , CM000664.1:g.190430086G>T GRCh37
NC_000002.10:g.190138331G>T NCBI36
NG_009027.1:g.20452C>A , LRG_837:g.20452C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.754C>A MANE Select ENSP00000261024.3:p.His252Asn
ENST00000261024.6:c.754C>A ENSP00000261024.2:p.His252Asn
NM_014585.5:c.754C>A , LRG_837t1:c.754C>A NP_055400.1:p.His252Asn
XM_005246505.1:c.634C>A XP_005246562.1:p.His212Asn
XM_005246505.2:c.634C>A XP_005246562.1:p.His212Asn
XM_017003938.2:c.634C>A XP_016859427.1:p.His212Asn
NM_014585.6:c.754C>A MANE Select NP_055400.1:p.His252Asn