Canonical Allele Identifier: CA430502689
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2096267
ClinVar RCV Id: RCV003006081
MyVariant Identifiers: chr2:g.190428881T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564155T>C , CM000664.2:g.189564155T>C GRCh38
NC_000002.11:g.190428881T>C , CM000664.1:g.190428881T>C GRCh37
NC_000002.10:g.190137126T>C NCBI36
NG_009027.1:g.21657A>G , LRG_837:g.21657A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.831A>G MANE Select ENSP00000261024.3:p.Glu277=
ENST00000261024.6:c.831A>G ENSP00000261024.2:p.Glu277=
NM_014585.5:c.831A>G , LRG_837t1:c.831A>G NP_055400.1:p.Glu277=
XM_005246505.1:c.711A>G XP_005246562.1:p.Glu237=
XM_005246505.2:c.711A>G XP_005246562.1:p.Glu237=
XM_017003938.2:c.711A>G XP_016859427.1:p.Glu237=
NM_014585.6:c.831A>G MANE Select NP_055400.1:p.Glu277=
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