Canonical Allele Identifier: CA430502527
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030847802
gnomAD v4: 2-189564068-A-G
MyVariant Identifiers: chr2:g.190428794A>G (hg19)
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Genomic Alleles

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

Transcript Alleles

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