Canonical Allele Identifier: CA349988909
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs1249234078

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565545A>G , CM000664.2:g.189565545A>G GRCh38
NC_000002.11:g.190430271A>G , CM000664.1:g.190430271A>G GRCh37
NC_000002.10:g.190138516A>G NCBI36
NG_009027.1:g.20267T>C , LRG_837:g.20267T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.569T>C MANE Select ENSP00000261024.3:p.Met190Thr
ENST00000261024.6:c.569T>C ENSP00000261024.2:p.Met190Thr
ENST00000427241.5:c.569T>C ENSP00000390005.1:p.Met190Thr
NM_014585.5:c.569T>C , LRG_837t1:c.569T>C NP_055400.1:p.Met190Thr
XM_005246505.1:c.449T>C XP_005246562.1:p.Met150Thr
XM_005246505.2:c.449T>C XP_005246562.1:p.Met150Thr
XM_017003938.2:c.449T>C XP_016859427.1:p.Met150Thr
NM_014585.6:c.569T>C MANE Select NP_055400.1:p.Met190Thr