Canonical Allele Identifier: CA382830224
Community Standard Title: NM_001197104.2(KMT2A):c.11071+1G>A
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118510119G>A , CM000673.2:g.118510119G>A GRCh38
NC_000011.9:g.118380834G>A , CM000673.1:g.118380834G>A GRCh37
NC_000011.8:g.117886044G>A NCBI36
NG_027813.1:g.78630G>A , LRG_613:g.78630G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11071+1G>A MANE Select NP_001184033.1:n.11071+1G>A
ENST00000534358.8:c.11071+1G>A MANE Select ENSP00000436786.2:n.11071+1G>A
NM_001197104.1:c.11071+1G>A , LRG_613t1:c.11071+1G>A NP_001184033.1:n.11071+1G>A
NM_005933.3:c.11062+1G>A NP_005924.2:n.11062+1G>A
NM_005933.4:c.11062+1G>A NP_005924.2:n.11062+1G>A
ENST00000389506.10:c.11062+1G>A ENSP00000374157.5:n.11062+1G>A
ENST00000389506.9:c.11062+1G>A ENSP00000374157.5:n.11062+1G>A
ENST00000527839.2:n.571+1G>A
ENST00000531904.7:c.11170+1G>A ENSP00000432391.3:n.11170+1G>A
ENST00000534358.5:c.11071+1G>A ENSP00000436786.1:n.11071+1G>A
ENST00000534678.2:n.173+1G>A
ENST00000534678.3:n.529+1G>A
ENST00000648565.1:n.307+1G>A
ENST00000649699.1:c.10948+1G>A ENSP00000496927.1:n.10948+1G>A
ENST00000649878.1:c.395+1G>A ENSP00000497891.1:n.395+1G>A
ENST00000649878.2:c.5087+1G>A ENSP00000497891.2:n.5087+1G>A
ENST00000685397.1:c.5029+1G>A ENSP00000509586.1:n.5029+1G>A
ENST00000686370.1:c.5131+1G>A ENSP00000509179.1:n.5131+1G>A
ENST00000686588.1:c.171+1G>A
ENST00000691053.1:c.11143+1G>A ENSP00000509168.1:n.11143+1G>A
ENST00000710560.1:c.11161+1G>A ENSP00000518343.1:n.11161+1G>A
XM_006718839.2:c.8554+1G>A XP_006718902.2:n.8554+1G>A
XM_006718839.3:c.8554+1G>A XP_006718902.2:n.8554+1G>A
XM_011542829.1:c.11170+1G>A XP_011541131.1:n.11170+1G>A
XM_011542829.2:c.11170+1G>A XP_011541131.1:n.11170+1G>A
XM_011542830.1:c.11167+1G>A XP_011541132.1:n.11167+1G>A
XM_011542830.2:c.11167+1G>A XP_011541132.1:n.11167+1G>A
XM_011542831.1:c.11161+1G>A XP_011541133.1:n.11161+1G>A
XM_011542831.2:c.11161+1G>A XP_011541133.1:n.11161+1G>A
XM_011542832.1:c.8977+1G>A XP_011541134.1:n.8977+1G>A
XM_011542833.1:c.8653+1G>A XP_011541135.1:n.8653+1G>A
XM_011542833.2:c.8653+1G>A XP_011541135.1:n.8653+1G>A