Canonical Allele Identifier: CA349987442
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428469C>T (hg19) chr2:g.189563743C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563743C>T , CM000664.2:g.189563743C>T GRCh38
NC_000002.11:g.190428469C>T , CM000664.1:g.190428469C>T GRCh37
NC_000002.10:g.190136714C>T NCBI36
NG_009027.1:g.22069G>A , LRG_837:g.22069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1243G>A MANE Select ENSP00000261024.3:p.Gly415Arg
ENST00000261024.6:c.1243G>A ENSP00000261024.2:p.Gly415Arg
NM_014585.5:c.1243G>A , LRG_837t1:c.1243G>A NP_055400.1:p.Gly415Arg
XM_005246505.1:c.1123G>A XP_005246562.1:p.Gly375Arg
XM_005246505.2:c.1123G>A XP_005246562.1:p.Gly375Arg
XM_017003938.2:c.1123G>A XP_016859427.1:p.Gly375Arg
NM_014585.6:c.1243G>A MANE Select NP_055400.1:p.Gly415Arg
Search 100 bp 5'
Search 100 bp 3'