Canonical Allele Identifier: CA349987916
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs1362460221
gnomAD v4: 2-189563972-A-C
MyVariant Identifiers: chr2:g.190428698A>C (hg19) chr2:g.189563972A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563972A>C , CM000664.2:g.189563972A>C GRCh38
NC_000002.11:g.190428698A>C , CM000664.1:g.190428698A>C GRCh37
NC_000002.10:g.190136943A>C NCBI36
NG_009027.1:g.21840T>G , LRG_837:g.21840T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1014T>G MANE Select ENSP00000261024.3:p.Ser338Arg
ENST00000261024.6:c.1014T>G ENSP00000261024.2:p.Ser338Arg
NM_014585.5:c.1014T>G , LRG_837t1:c.1014T>G NP_055400.1:p.Ser338Arg
XM_005246505.1:c.894T>G XP_005246562.1:p.Ser298Arg
XM_005246505.2:c.894T>G XP_005246562.1:p.Ser298Arg
XM_017003938.2:c.894T>G XP_016859427.1:p.Ser298Arg
NM_014585.6:c.1014T>G MANE Select NP_055400.1:p.Ser338Arg
Search 100 bp 5'
Search 100 bp 3'