Canonical Allele Identifier: CA349988478
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428953T>A (hg19) chr2:g.189564227T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564227T>A , CM000664.2:g.189564227T>A GRCh38
NC_000002.11:g.190428953T>A , CM000664.1:g.190428953T>A GRCh37
NC_000002.10:g.190137198T>A NCBI36
NG_009027.1:g.21585A>T , LRG_837:g.21585A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.761-2A>T MANE Select ENSP00000261024.3:n.761-2A>T
ENST00000261024.6:c.761-2A>T ENSP00000261024.2:n.761-2A>T
NM_014585.5:c.761-2A>T , LRG_837t1:c.761-2A>T NP_055400.1:n.761-2A>T
XM_005246505.1:c.641-2A>T XP_005246562.1:n.641-2A>T
XM_005246505.2:c.641-2A>T XP_005246562.1:n.641-2A>T
XM_017003938.2:c.641-2A>T XP_016859427.1:n.641-2A>T
NM_014585.6:c.761-2A>T MANE Select NP_055400.1:n.761-2A>T
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