Canonical Allele Identifier: CA382801403
Community Standard Title: NM_001197104.2(KMT2A):c.6320-1G>A
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118501671G>A , CM000673.2:g.118501671G>A GRCh38
NC_000011.9:g.118372386G>A , CM000673.1:g.118372386G>A GRCh37
NC_000011.8:g.117877596G>A NCBI36
NG_027813.1:g.70182G>A , LRG_613:g.70182G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.6320-1G>A MANE Select NP_001184033.1:n.6320-1G>A
ENST00000534358.8:c.6320-1G>A MANE Select ENSP00000436786.2:n.6320-1G>A
NM_001197104.1:c.6320-1G>A , LRG_613t1:c.6320-1G>A NP_001184033.1:n.6320-1G>A
NM_005933.3:c.6311-1G>A NP_005924.2:n.6311-1G>A
NM_005933.4:c.6311-1G>A NP_005924.2:n.6311-1G>A
ENST00000389506.10:c.6311-1G>A ENSP00000374157.5:n.6311-1G>A
ENST00000389506.9:c.6311-1G>A ENSP00000374157.5:n.6311-1G>A
ENST00000528278.1:n.447-1G>A
ENST00000528278.2:n.5662-1G>A
ENST00000531904.7:c.6419-1G>A ENSP00000432391.3:n.6419-1G>A
ENST00000534358.5:c.6320-1G>A ENSP00000436786.1:n.6320-1G>A
ENST00000649699.1:c.6197-1G>A ENSP00000496927.1:n.6197-1G>A
ENST00000649878.2:c.359-1G>A ENSP00000497891.2:n.359-1G>A
ENST00000685397.1:c.359-1G>A ENSP00000509586.1:n.359-1G>A
ENST00000686370.1:c.359-1G>A ENSP00000509179.1:n.359-1G>A
ENST00000689424.1:c.617-1G>A ENSP00000509852.1:n.617-1G>A
ENST00000691053.1:c.6392-1G>A ENSP00000509168.1:n.6392-1G>A
ENST00000710560.1:c.6410-1G>A ENSP00000518343.1:n.6410-1G>A
XM_006718839.2:c.3803-1G>A XP_006718902.2:n.3803-1G>A
XM_006718839.3:c.3803-1G>A XP_006718902.2:n.3803-1G>A
XM_011542829.1:c.6419-1G>A XP_011541131.1:n.6419-1G>A
XM_011542829.2:c.6419-1G>A XP_011541131.1:n.6419-1G>A
XM_011542830.1:c.6416-1G>A XP_011541132.1:n.6416-1G>A
XM_011542830.2:c.6416-1G>A XP_011541132.1:n.6416-1G>A
XM_011542831.1:c.6410-1G>A XP_011541133.1:n.6410-1G>A
XM_011542831.2:c.6410-1G>A XP_011541133.1:n.6410-1G>A
XM_011542832.1:c.4226-1G>A XP_011541134.1:n.4226-1G>A
XM_011542833.1:c.3902-1G>A XP_011541135.1:n.3902-1G>A
XM_011542833.2:c.3902-1G>A XP_011541135.1:n.3902-1G>A