Canonical Allele Identifier: CA430367328
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2031131897
MyVariant Identifiers: chr2:g.190436448T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571722T>C , CM000664.2:g.189571722T>C GRCh38
NC_000002.11:g.190436448T>C , CM000664.1:g.190436448T>C GRCh37
NC_000002.10:g.190144693T>C NCBI36
NG_009027.1:g.14090A>G , LRG_837:g.14090A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.507A>G MANE Select ENSP00000261024.3:p.Lys169=
ENST00000261024.6:c.507A>G ENSP00000261024.2:p.Lys169=
ENST00000427241.5:c.507A>G ENSP00000390005.1:p.Lys169=
NM_014585.5:c.507A>G , LRG_837t1:c.507A>G NP_055400.1:p.Lys169=
XM_005246505.1:c.387A>G XP_005246562.1:p.Lys129=
XM_005246505.2:c.387A>G XP_005246562.1:p.Lys129=
XM_017003938.2:c.387A>G XP_016859427.1:p.Lys129=
NM_014585.6:c.507A>G MANE Select NP_055400.1:p.Lys169=
Search 100 bp 5'
Search 100 bp 3'