Canonical Allele Identifier: CA382834507
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491303C>A , CM000673.2:g.118491303C>A GRCh38
NC_000011.9:g.118362018C>A , CM000673.1:g.118362018C>A GRCh37
NC_000011.8:g.117867228C>A NCBI36
NG_027813.1:g.59814C>A , LRG_613:g.59814C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4903C>A ENSP00000432391.3:p.Leu1635Ile
ENST00000710560.1:c.4903C>A ENSP00000518343.1:p.Leu1635Ile
ENST00000685498.1:c.580C>A ENSP00000509293.1:p.Leu194Ile
ENST00000691053.1:c.4804C>A ENSP00000509168.1:p.Leu1602Ile
ENST00000389506.10:c.4804C>A ENSP00000374157.5:p.Leu1602Ile
ENST00000534358.8:c.4804C>A MANE Select ENSP00000436786.2:p.Leu1602Ile
ENST00000649699.1:c.4690C>A ENSP00000496927.1:p.Leu1564Ile
ENST00000389506.9:c.4804C>A ENSP00000374157.5:p.Leu1602Ile
ENST00000392873.3:c.940C>A ENSP00000376612.3:p.Leu314Ile
ENST00000534358.5:c.4804C>A ENSP00000436786.1:p.Leu1602Ile
NM_001197104.1:c.4804C>A , LRG_613t1:c.4804C>A NP_001184033.1:p.Leu1602Ile
NM_005933.3:c.4804C>A NP_005924.2:p.Leu1602Ile
XM_006718839.2:c.2287C>A XP_006718902.2:p.Leu763Ile
XM_011542829.1:c.4903C>A XP_011541131.1:p.Leu1635Ile
XM_011542830.1:c.4900C>A XP_011541132.1:p.Leu1634Ile
XM_011542831.1:c.4903C>A XP_011541133.1:p.Leu1635Ile
XM_011542832.1:c.2710C>A XP_011541134.1:p.Leu904Ile
XM_011542833.1:c.2386C>A XP_011541135.1:p.Leu796Ile
XM_006718839.3:c.2287C>A XP_006718902.2:p.Leu763Ile
XM_011542829.2:c.4903C>A XP_011541131.1:p.Leu1635Ile
XM_011542830.2:c.4900C>A XP_011541132.1:p.Leu1634Ile
XM_011542831.2:c.4903C>A XP_011541133.1:p.Leu1635Ile
XM_011542833.2:c.2386C>A XP_011541135.1:p.Leu796Ile
NM_001197104.2:c.4804C>A MANE Select NP_001184033.1:p.Leu1602Ile
NM_005933.4:c.4804C>A NP_005924.2:p.Leu1602Ile