Canonical Allele Identifier: CA430502748
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428908C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564182C>G , CM000664.2:g.189564182C>G GRCh38
NC_000002.11:g.190428908C>G , CM000664.1:g.190428908C>G GRCh37
NC_000002.10:g.190137153C>G NCBI36
NG_009027.1:g.21630G>C , LRG_837:g.21630G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.804G>C MANE Select ENSP00000261024.3:p.Val268=
ENST00000261024.6:c.804G>C ENSP00000261024.2:p.Val268=
NM_014585.5:c.804G>C , LRG_837t1:c.804G>C NP_055400.1:p.Val268=
XM_005246505.1:c.684G>C XP_005246562.1:p.Val228=
XM_005246505.2:c.684G>C XP_005246562.1:p.Val228=
XM_017003938.2:c.684G>C XP_016859427.1:p.Val228=
NM_014585.6:c.804G>C MANE Select NP_055400.1:p.Val268=
Search 100 bp 5'
Search 100 bp 3'