Canonical Allele Identifier: CA349988292
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428869C>A (hg19) chr2:g.189564143C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564143C>A , CM000664.2:g.189564143C>A GRCh38
NC_000002.11:g.190428869C>A , CM000664.1:g.190428869C>A GRCh37
NC_000002.10:g.190137114C>A NCBI36
NG_009027.1:g.21669G>T , LRG_837:g.21669G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.843G>T MANE Select ENSP00000261024.3:p.Glu281Asp
ENST00000261024.6:c.843G>T ENSP00000261024.2:p.Glu281Asp
NM_014585.5:c.843G>T , LRG_837t1:c.843G>T NP_055400.1:p.Glu281Asp
XM_005246505.1:c.723G>T XP_005246562.1:p.Glu241Asp
XM_005246505.2:c.723G>T XP_005246562.1:p.Glu241Asp
XM_017003938.2:c.723G>T XP_016859427.1:p.Glu241Asp
NM_014585.6:c.843G>T MANE Select NP_055400.1:p.Glu281Asp
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Search 100 bp 3'