Canonical Allele Identifier: CA349988225
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs754420772

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564114G>A , CM000664.2:g.189564114G>A GRCh38
NC_000002.11:g.190428840G>A , CM000664.1:g.190428840G>A GRCh37
NC_000002.10:g.190137085G>A NCBI36
NG_009027.1:g.21698C>T , LRG_837:g.21698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.872C>T MANE Select ENSP00000261024.3:p.Pro291Leu
ENST00000261024.6:c.872C>T ENSP00000261024.2:p.Pro291Leu
NM_014585.5:c.872C>T , LRG_837t1:c.872C>T NP_055400.1:p.Pro291Leu
XM_005246505.1:c.752C>T XP_005246562.1:p.Pro251Leu
XM_005246505.2:c.752C>T XP_005246562.1:p.Pro251Leu
XM_017003938.2:c.752C>T XP_016859427.1:p.Pro251Leu
NM_014585.6:c.872C>T MANE Select NP_055400.1:p.Pro291Leu