Canonical Allele Identifier: CA349989782
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190439979A>T (hg19) chr2:g.189575253A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575253A>T , CM000664.2:g.189575253A>T GRCh38
NC_000002.11:g.190439979A>T , CM000664.1:g.190439979A>T GRCh37
NC_000002.10:g.190148224A>T NCBI36
NG_009027.1:g.10559T>A , LRG_837:g.10559T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.179T>A MANE Select ENSP00000261024.3:p.Leu60Ter
ENST00000261024.6:c.179T>A ENSP00000261024.2:p.Leu60Ter
ENST00000418714.1:n.620T>A
ENST00000427241.5:c.179T>A ENSP00000390005.1:p.Leu60Ter
ENST00000479598.5:n.460T>A
NM_014585.5:c.179T>A , LRG_837t1:c.179T>A NP_055400.1:p.Leu60Ter
XM_005246505.1:c.59T>A XP_005246562.1:p.Leu20Ter
XM_005246505.2:c.59T>A XP_005246562.1:p.Leu20Ter
XM_017003938.2:c.59T>A XP_016859427.1:p.Leu20Ter
NM_014585.6:c.179T>A MANE Select NP_055400.1:p.Leu60Ter
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