Canonical Allele Identifier: CA445499804
Gene: ERAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.96118871T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96783167T>G , CM000667.2:g.96783167T>G GRCh38
NC_000005.9:g.96118871T>G , CM000667.1:g.96118871T>G GRCh37
NC_000005.8:g.96144627T>G NCBI36
NG_027839.1:g.35978A>C
NG_027839.2:g.157817A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000443439.7:c.2169A>C MANE Select ENSP00000406304.2:p.Ser723=
ENST00000296754.7:c.2169A>C ENSP00000296754.3:p.Ser723=
ENST00000443439.6:c.2169A>C ENSP00000406304.2:p.Ser723=
ENST00000514604.5:n.593A>C
NM_001040458.1:c.2169A>C NP_001035548.1:p.Ser723=
NM_001198541.1:c.2169A>C NP_001185470.1:p.Ser723=
NM_016442.3:c.2169A>C NP_057526.3:p.Ser723=
XM_005272015.3:c.2169A>C XP_005272072.1:p.Ser723=
XM_005272016.3:c.2169A>C XP_005272073.1:p.Ser723=
XM_011543480.1:c.2169A>C XP_011541782.1:p.Ser723=
XM_011543481.1:c.2169A>C XP_011541783.1:p.Ser723=
XM_011543482.1:c.2169A>C XP_011541784.1:p.Ser723=
XM_011543483.1:c.2169A>C XP_011541785.1:p.Ser723=
XM_011543484.1:c.2169A>C XP_011541786.1:p.Ser723=
XM_011543485.1:c.2169A>C XP_011541787.1:p.Ser723=
XM_011543486.1:c.2169A>C XP_011541788.1:p.Ser723=
XM_011543487.1:c.2169A>C XP_011541789.1:p.Ser723=
XR_427744.2:n.89+1292T>G
XR_948592.1:n.89+1292T>G
XR_948593.1:n.398-1839T>G
XR_948594.1:n.71+1274T>G
XR_948595.1:n.398-1839T>G
NM_001040458.2:c.2169A>C NP_001035548.1:p.Ser723=
NM_001198541.2:c.2169A>C NP_001185470.1:p.Ser723=
NM_001349244.1:c.2169A>C NP_001336173.1:p.Ser723=
NM_016442.4:c.2169A>C NP_057526.3:p.Ser723=
XM_005272015.5:c.2169A>C XP_005272072.1:p.Ser723=
XM_005272016.4:c.2169A>C XP_005272073.1:p.Ser723=
XM_011543480.2:c.2169A>C XP_011541782.1:p.Ser723=
XM_011543481.2:c.2169A>C XP_011541783.1:p.Ser723=
XM_011543484.2:c.2169A>C XP_011541786.1:p.Ser723=
XM_011543485.2:c.2169A>C XP_011541787.1:p.Ser723=
XM_011543486.3:c.2169A>C XP_011541788.1:p.Ser723=
XM_017009581.1:c.2169A>C XP_016865070.1:p.Ser723=
XM_017009583.2:c.1074A>C XP_016865072.1:p.Ser358=
XM_024446113.1:c.2169A>C XP_024301881.1:p.Ser723=
XR_001742119.2:n.2307A>C
XR_001742445.1:n.2962+1292T>G
XR_001742446.1:n.725+1292T>G
NM_001040458.3:c.2169A>C MANE Select NP_001035548.1:p.Ser723=
NM_001198541.3:c.2169A>C NP_001185470.1:p.Ser723=
NM_001349244.2:c.2169A>C NP_001336173.1:p.Ser723=
NM_016442.5:c.2169A>C NP_057526.3:p.Ser723=