Canonical Allele Identifier: CA349988408
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564193G>C , CM000664.2:g.189564193G>C GRCh38
NC_000002.11:g.190428919G>C , CM000664.1:g.190428919G>C GRCh37
NC_000002.10:g.190137164G>C NCBI36
NG_009027.1:g.21619C>G , LRG_837:g.21619C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.793C>G MANE Select ENSP00000261024.3:p.Leu265Val
ENST00000261024.6:c.793C>G ENSP00000261024.2:p.Leu265Val
NM_014585.5:c.793C>G , LRG_837t1:c.793C>G NP_055400.1:p.Leu265Val
XM_005246505.1:c.673C>G XP_005246562.1:p.Leu225Val
XM_005246505.2:c.673C>G XP_005246562.1:p.Leu225Val
XM_017003938.2:c.673C>G XP_016859427.1:p.Leu225Val
NM_014585.6:c.793C>G MANE Select NP_055400.1:p.Leu265Val