Canonical Allele Identifier: CA349989858
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs1246828353

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575290C>A , CM000664.2:g.189575290C>A GRCh38
NC_000002.11:g.190440016C>A , CM000664.1:g.190440016C>A GRCh37
NC_000002.10:g.190148261C>A NCBI36
NG_009027.1:g.10522G>T , LRG_837:g.10522G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.142G>T MANE Select ENSP00000261024.3:p.Val48Leu
ENST00000261024.6:c.142G>T ENSP00000261024.2:p.Val48Leu
ENST00000418714.1:n.583G>T
ENST00000427241.5:c.142G>T ENSP00000390005.1:p.Val48Leu
ENST00000455320.5:c.142G>T ENSP00000413549.1:p.Val48Leu
ENST00000479598.5:n.423G>T
NM_014585.5:c.142G>T , LRG_837t1:c.142G>T NP_055400.1:p.Val48Leu
XM_005246505.1:c.22G>T XP_005246562.1:p.Val8Leu
XM_005246505.2:c.22G>T XP_005246562.1:p.Val8Leu
XM_017003938.2:c.22G>T XP_016859427.1:p.Val8Leu
NM_014585.6:c.142G>T MANE Select NP_055400.1:p.Val48Leu