Canonical Allele Identifier: CA2024144
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs749234266
ExAC: 2:190428917 T / C
gnomAD v2: 2-190428917-T-C
gnomAD v4: 2-189564191-T-C
MyVariant Identifiers: chr2:g.190428917T>C (hg19) chr2:g.189564191T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564191T>C , CM000664.2:g.189564191T>C GRCh38
NC_000002.11:g.190428917T>C , CM000664.1:g.190428917T>C GRCh37
NC_000002.10:g.190137162T>C NCBI36
NG_009027.1:g.21621A>G , LRG_837:g.21621A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.795A>G MANE Select ENSP00000261024.3:p.Leu265=
ENST00000261024.6:c.795A>G ENSP00000261024.2:p.Leu265=
NM_014585.5:c.795A>G , LRG_837t1:c.795A>G NP_055400.1:p.Leu265=
XM_005246505.1:c.675A>G XP_005246562.1:p.Leu225=
XM_005246505.2:c.675A>G XP_005246562.1:p.Leu225=
XM_017003938.2:c.675A>G XP_016859427.1:p.Leu225=
NM_014585.6:c.795A>G MANE Select NP_055400.1:p.Leu265=
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