Canonical Allele Identifier: CA430502525
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428794A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564068A>C , CM000664.2:g.189564068A>C GRCh38
NC_000002.11:g.190428794A>C , CM000664.1:g.190428794A>C GRCh37
NC_000002.10:g.190137039A>C NCBI36
NG_009027.1:g.21744T>G , LRG_837:g.21744T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.918T>G MANE Select ENSP00000261024.3:p.Pro306=
ENST00000261024.6:c.918T>G ENSP00000261024.2:p.Pro306=
NM_014585.5:c.918T>G , LRG_837t1:c.918T>G NP_055400.1:p.Pro306=
XM_005246505.1:c.798T>G XP_005246562.1:p.Pro266=
XM_005246505.2:c.798T>G XP_005246562.1:p.Pro266=
XM_017003938.2:c.798T>G XP_016859427.1:p.Pro266=
NM_014585.6:c.918T>G MANE Select NP_055400.1:p.Pro306=