Canonical Allele Identifier: CA430502830
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428941T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564215T>A , CM000664.2:g.189564215T>A GRCh38
NC_000002.11:g.190428941T>A , CM000664.1:g.190428941T>A GRCh37
NC_000002.10:g.190137186T>A NCBI36
NG_009027.1:g.21597A>T , LRG_837:g.21597A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.771A>T MANE Select ENSP00000261024.3:p.Pro257=
ENST00000261024.6:c.771A>T ENSP00000261024.2:p.Pro257=
NM_014585.5:c.771A>T , LRG_837t1:c.771A>T NP_055400.1:p.Pro257=
XM_005246505.1:c.651A>T XP_005246562.1:p.Pro217=
XM_005246505.2:c.651A>T XP_005246562.1:p.Pro217=
XM_017003938.2:c.651A>T XP_016859427.1:p.Pro217=
NM_014585.6:c.771A>T MANE Select NP_055400.1:p.Pro257=