Canonical Allele Identifier: CA349989862
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575292G>C , CM000664.2:g.189575292G>C GRCh38
NC_000002.11:g.190440018G>C , CM000664.1:g.190440018G>C GRCh37
NC_000002.10:g.190148263G>C NCBI36
NG_009027.1:g.10520C>G , LRG_837:g.10520C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.140C>G MANE Select ENSP00000261024.3:p.Ser47Cys
ENST00000261024.6:c.140C>G ENSP00000261024.2:p.Ser47Cys
ENST00000418714.1:n.581C>G
ENST00000427241.5:c.140C>G ENSP00000390005.1:p.Ser47Cys
ENST00000455320.5:c.140C>G ENSP00000413549.1:p.Ser47Cys
ENST00000479598.5:n.421C>G
NM_014585.5:c.140C>G , LRG_837t1:c.140C>G NP_055400.1:p.Ser47Cys
XM_005246505.1:c.20C>G XP_005246562.1:p.Ser7Cys
XM_005246505.2:c.20C>G XP_005246562.1:p.Ser7Cys
XM_017003938.2:c.20C>G XP_016859427.1:p.Ser7Cys
NM_014585.6:c.140C>G MANE Select NP_055400.1:p.Ser47Cys