Canonical Allele Identifier: CA349987536
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563788A>C , CM000664.2:g.189563788A>C GRCh38
NC_000002.11:g.190428514A>C , CM000664.1:g.190428514A>C GRCh37
NC_000002.10:g.190136759A>C NCBI36
NG_009027.1:g.22024T>G , LRG_837:g.22024T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1198T>G MANE Select ENSP00000261024.3:p.Leu400Val
ENST00000261024.6:c.1198T>G ENSP00000261024.2:p.Leu400Val
NM_014585.5:c.1198T>G , LRG_837t1:c.1198T>G NP_055400.1:p.Leu400Val
XM_005246505.1:c.1078T>G XP_005246562.1:p.Leu360Val
XM_005246505.2:c.1078T>G XP_005246562.1:p.Leu360Val
XM_017003938.2:c.1078T>G XP_016859427.1:p.Leu360Val
NM_014585.6:c.1198T>G MANE Select NP_055400.1:p.Leu400Val