Canonical Allele Identifier: CA430502533
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430156C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565430C>T , CM000664.2:g.189565430C>T GRCh38
NC_000002.11:g.190430156C>T , CM000664.1:g.190430156C>T GRCh37
NC_000002.10:g.190138401C>T NCBI36
NG_009027.1:g.20382G>A , LRG_837:g.20382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.684G>A MANE Select ENSP00000261024.3:p.Gln228=
ENST00000261024.6:c.684G>A ENSP00000261024.2:p.Gln228=
NM_014585.5:c.684G>A , LRG_837t1:c.684G>A NP_055400.1:p.Gln228=
XM_005246505.1:c.564G>A XP_005246562.1:p.Gln188=
XM_005246505.2:c.564G>A XP_005246562.1:p.Gln188=
XM_017003938.2:c.564G>A XP_016859427.1:p.Gln188=
NM_014585.6:c.684G>A MANE Select NP_055400.1:p.Gln228=