Canonical Allele Identifier: CA349988214
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564108C>A , CM000664.2:g.189564108C>A GRCh38
NC_000002.11:g.190428834C>A , CM000664.1:g.190428834C>A GRCh37
NC_000002.10:g.190137079C>A NCBI36
NG_009027.1:g.21704G>T , LRG_837:g.21704G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.878G>T MANE Select ENSP00000261024.3:p.Arg293Leu
ENST00000261024.6:c.878G>T ENSP00000261024.2:p.Arg293Leu
NM_014585.5:c.878G>T , LRG_837t1:c.878G>T NP_055400.1:p.Arg293Leu
XM_005246505.1:c.758G>T XP_005246562.1:p.Arg253Leu
XM_005246505.2:c.758G>T XP_005246562.1:p.Arg253Leu
XM_017003938.2:c.758G>T XP_016859427.1:p.Arg253Leu
NM_014585.6:c.878G>T MANE Select NP_055400.1:p.Arg293Leu