Canonical Allele Identifier: CA349988061
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428763G>T (hg19) chr2:g.189564037G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564037G>T , CM000664.2:g.189564037G>T GRCh38
NC_000002.11:g.190428763G>T , CM000664.1:g.190428763G>T GRCh37
NC_000002.10:g.190137008G>T NCBI36
NG_009027.1:g.21775C>A , LRG_837:g.21775C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.949C>A MANE Select ENSP00000261024.3:p.Leu317Ile
ENST00000261024.6:c.949C>A ENSP00000261024.2:p.Leu317Ile
NM_014585.5:c.949C>A , LRG_837t1:c.949C>A NP_055400.1:p.Leu317Ile
XM_005246505.1:c.829C>A XP_005246562.1:p.Leu277Ile
XM_005246505.2:c.829C>A XP_005246562.1:p.Leu277Ile
XM_017003938.2:c.829C>A XP_016859427.1:p.Leu277Ile
NM_014585.6:c.949C>A MANE Select NP_055400.1:p.Leu317Ile
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