Canonical Allele Identifier: CA2578367846
Gene: ERAP1 HGNC NCBI

Linked Data

gnomAD v4: 5-96786432-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96786432C>G , CM000667.2:g.96786432C>G GRCh38
NC_000005.9:g.96122136C>G , CM000667.1:g.96122136C>G GRCh37
NC_000005.8:g.96147892C>G NCBI36
NG_027839.1:g.32713G>C
NG_027839.2:g.154552G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000443439.7:c.1759+38G>C MANE Select ENSP00000406304.2:n.1759+38G>C
ENST00000296754.7:c.1759+38G>C ENSP00000296754.3:n.1759+38G>C
ENST00000443439.6:c.1759+38G>C ENSP00000406304.2:n.1759+38G>C
ENST00000507859.1:n.422+38G>C
ENST00000514604.5:n.183+38G>C
NM_001040458.1:c.1759+38G>C NP_001035548.1:n.1759+38G>C
NM_001198541.1:c.1759+38G>C NP_001185470.1:n.1759+38G>C
NM_016442.3:c.1759+38G>C NP_057526.3:n.1759+38G>C
XM_005272015.3:c.1759+38G>C XP_005272072.1:n.1759+38G>C
XM_005272016.3:c.1759+38G>C XP_005272073.1:n.1759+38G>C
XM_011543480.1:c.1759+38G>C XP_011541782.1:n.1759+38G>C
XM_011543481.1:c.1759+38G>C XP_011541783.1:n.1759+38G>C
XM_011543482.1:c.1759+38G>C XP_011541784.1:n.1759+38G>C
XM_011543483.1:c.1759+38G>C XP_011541785.1:n.1759+38G>C
XM_011543484.1:c.1759+38G>C XP_011541786.1:n.1759+38G>C
XM_011543485.1:c.1759+38G>C XP_011541787.1:n.1759+38G>C
XM_011543486.1:c.1759+38G>C XP_011541788.1:n.1759+38G>C
XM_011543487.1:c.1759+38G>C XP_011541789.1:n.1759+38G>C
NM_001040458.2:c.1759+38G>C NP_001035548.1:n.1759+38G>C
NM_001198541.2:c.1759+38G>C NP_001185470.1:n.1759+38G>C
NM_001349244.1:c.1759+38G>C NP_001336173.1:n.1759+38G>C
NM_016442.4:c.1759+38G>C NP_057526.3:n.1759+38G>C
XM_005272015.5:c.1759+38G>C XP_005272072.1:n.1759+38G>C
XM_005272016.4:c.1759+38G>C XP_005272073.1:n.1759+38G>C
XM_011543480.2:c.1759+38G>C XP_011541782.1:n.1759+38G>C
XM_011543481.2:c.1759+38G>C XP_011541783.1:n.1759+38G>C
XM_011543484.2:c.1759+38G>C XP_011541786.1:n.1759+38G>C
XM_011543485.2:c.1759+38G>C XP_011541787.1:n.1759+38G>C
XM_011543486.3:c.1759+38G>C XP_011541788.1:n.1759+38G>C
XM_017009581.1:c.1759+38G>C XP_016865070.1:n.1759+38G>C
XM_017009583.2:c.664+38G>C XP_016865072.1:n.664+38G>C
XM_024446113.1:c.1759+38G>C XP_024301881.1:n.1759+38G>C
XR_001742119.2:n.1897+38G>C
NM_001040458.3:c.1759+38G>C MANE Select NP_001035548.1:n.1759+38G>C
NM_001198541.3:c.1759+38G>C NP_001185470.1:n.1759+38G>C
NM_001349244.2:c.1759+38G>C NP_001336173.1:n.1759+38G>C
NM_016442.5:c.1759+38G>C NP_057526.3:n.1759+38G>C