Canonical Allele Identifier: CA349988459
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564219T>G , CM000664.2:g.189564219T>G GRCh38
NC_000002.11:g.190428945T>G , CM000664.1:g.190428945T>G GRCh37
NC_000002.10:g.190137190T>G NCBI36
NG_009027.1:g.21593A>C , LRG_837:g.21593A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.767A>C MANE Select ENSP00000261024.3:p.Glu256Ala
ENST00000261024.6:c.767A>C ENSP00000261024.2:p.Glu256Ala
NM_014585.5:c.767A>C , LRG_837t1:c.767A>C NP_055400.1:p.Glu256Ala
XM_005246505.1:c.647A>C XP_005246562.1:p.Glu216Ala
XM_005246505.2:c.647A>C XP_005246562.1:p.Glu216Ala
XM_017003938.2:c.647A>C XP_016859427.1:p.Glu216Ala
NM_014585.6:c.767A>C MANE Select NP_055400.1:p.Glu256Ala