Canonical Allele Identifier: CA15252887
Gene: MECOM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169362397T>G , CM000665.2:g.169362397T>G GRCh38
NC_000003.11:g.169080185T>G , CM000665.1:g.169080185T>G GRCh37
NC_000003.10:g.170562879T>G NCBI36
NG_028279.1:g.306379A>C
NG_028279.2:g.306379A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000494292.6:c.375+18790A>C ENSP00000417899.1:n.375+18790A>C
ENST00000651503.2:c.375+18790A>C MANE Select ENSP00000498411.1:n.375+18790A>C
ENST00000485957.1:n.621+18790A>C
ENST00000494292.5:c.375+18790A>C ENSP00000417899.1:n.375+18790A>C
NM_001205194.1:c.-189-218565A>C NP_001192123.1:n.-189-218565A>C
NM_004991.3:c.375+18790A>C NP_004982.2:n.375+18790A>C
XM_005247213.2:c.375+18790A>C XP_005247270.1:n.375+18790A>C
XM_005247214.2:c.375+18790A>C XP_005247271.1:n.375+18790A>C
XM_005247215.2:c.375+18790A>C XP_005247272.1:n.375+18790A>C
XM_005247224.2:c.375+18790A>C XP_005247281.1:n.375+18790A>C
XM_005247225.2:c.375+18790A>C XP_005247282.1:n.375+18790A>C
XM_005247226.2:c.375+18790A>C XP_005247283.1:n.375+18790A>C
NM_001366466.1:c.375+18790A>C NP_001353395.1:n.375+18790A>C
NM_001366473.1:c.375+18790A>C NP_001353402.1:n.375+18790A>C
XM_005247213.3:c.375+18790A>C XP_005247270.1:n.375+18790A>C
XM_005247214.3:c.375+18790A>C XP_005247271.1:n.375+18790A>C
XM_005247224.3:c.375+18790A>C XP_005247281.1:n.375+18790A>C
XM_005247225.4:c.375+18790A>C XP_005247282.1:n.375+18790A>C
XM_017005877.1:c.375+18790A>C XP_016861366.1:n.375+18790A>C
NM_001205194.2:c.-189-218565A>C NP_001192123.1:n.-189-218565A>C
NM_001366466.2:c.375+18790A>C NP_001353395.1:n.375+18790A>C
NM_001366473.2:c.375+18790A>C NP_001353402.1:n.375+18790A>C
NM_004991.4:c.375+18790A>C MANE Select NP_004982.2:n.375+18790A>C
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