Canonical Allele Identifier: CA430367510
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190439930T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575204T>G , CM000664.2:g.189575204T>G GRCh38
NC_000002.11:g.190439930T>G , CM000664.1:g.190439930T>G GRCh37
NC_000002.10:g.190148175T>G NCBI36
NG_009027.1:g.10608A>C , LRG_837:g.10608A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.228A>C MANE Select ENSP00000261024.3:p.Gly76=
ENST00000261024.6:c.228A>C ENSP00000261024.2:p.Gly76=
ENST00000418714.1:n.669A>C
ENST00000427241.5:c.228A>C ENSP00000390005.1:p.Gly76=
ENST00000479598.5:n.509A>C
NM_014585.5:c.228A>C , LRG_837t1:c.228A>C NP_055400.1:p.Gly76=
XM_005246505.1:c.108A>C XP_005246562.1:p.Gly36=
XM_005246505.2:c.108A>C XP_005246562.1:p.Gly36=
XM_017003938.2:c.108A>C XP_016859427.1:p.Gly36=
NM_014585.6:c.228A>C MANE Select NP_055400.1:p.Gly76=