Canonical Allele Identifier: CA349988705
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430179C>G (hg19) chr2:g.189565453C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565453C>G , CM000664.2:g.189565453C>G GRCh38
NC_000002.11:g.190430179C>G , CM000664.1:g.190430179C>G GRCh37
NC_000002.10:g.190138424C>G NCBI36
NG_009027.1:g.20359G>C , LRG_837:g.20359G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.661G>C MANE Select ENSP00000261024.3:p.Val221Leu
ENST00000261024.6:c.661G>C ENSP00000261024.2:p.Val221Leu
NM_014585.5:c.661G>C , LRG_837t1:c.661G>C NP_055400.1:p.Val221Leu
XM_005246505.1:c.541G>C XP_005246562.1:p.Val181Leu
XM_005246505.2:c.541G>C XP_005246562.1:p.Val181Leu
XM_017003938.2:c.541G>C XP_016859427.1:p.Val181Leu
NM_014585.6:c.661G>C MANE Select NP_055400.1:p.Val221Leu
Search 100 bp 5'
Search 100 bp 3'