Canonical Allele Identifier: CA349987157
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428333G>T (hg19) chr2:g.189563607G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563607G>T , CM000664.2:g.189563607G>T GRCh38
NC_000002.11:g.190428333G>T , CM000664.1:g.190428333G>T GRCh37
NC_000002.10:g.190136578G>T NCBI36
NG_009027.1:g.22205C>A , LRG_837:g.22205C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1379C>A MANE Select ENSP00000261024.3:p.Ala460Glu
ENST00000261024.6:c.1379C>A ENSP00000261024.2:p.Ala460Glu
NM_014585.5:c.1379C>A , LRG_837t1:c.1379C>A NP_055400.1:p.Ala460Glu
XM_005246505.1:c.1259C>A XP_005246562.1:p.Ala420Glu
XM_005246505.2:c.1259C>A XP_005246562.1:p.Ala420Glu
XM_017003938.2:c.1259C>A XP_016859427.1:p.Ala420Glu
NM_014585.6:c.1379C>A MANE Select NP_055400.1:p.Ala460Glu
Search 100 bp 5'
Search 100 bp 3'