Canonical Allele Identifier: CA382834267
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491208C>T , CM000673.2:g.118491208C>T GRCh38
NC_000011.9:g.118361923C>T , CM000673.1:g.118361923C>T GRCh37
NC_000011.8:g.117867133C>T NCBI36
NG_027813.1:g.59719C>T , LRG_613:g.59719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4808C>T ENSP00000432391.3:p.Pro1603Leu
ENST00000710560.1:c.4808C>T ENSP00000518343.1:p.Pro1603Leu
ENST00000685498.1:c.485C>T ENSP00000509293.1:p.Pro162Leu
ENST00000691053.1:c.4709C>T ENSP00000509168.1:p.Pro1570Leu
ENST00000389506.10:c.4709C>T ENSP00000374157.5:p.Pro1570Leu
ENST00000534358.8:c.4709C>T MANE Select ENSP00000436786.2:p.Pro1570Leu
ENST00000649699.1:c.4595C>T ENSP00000496927.1:p.Pro1532Leu
ENST00000389506.9:c.4709C>T ENSP00000374157.5:p.Pro1570Leu
ENST00000392873.3:c.845C>T ENSP00000376612.3:p.Pro282Leu
ENST00000534358.5:c.4709C>T ENSP00000436786.1:p.Pro1570Leu
NM_001197104.1:c.4709C>T , LRG_613t1:c.4709C>T NP_001184033.1:p.Pro1570Leu
NM_005933.3:c.4709C>T NP_005924.2:p.Pro1570Leu
XM_006718839.2:c.2192C>T XP_006718902.2:p.Pro731Leu
XM_011542829.1:c.4808C>T XP_011541131.1:p.Pro1603Leu
XM_011542830.1:c.4805C>T XP_011541132.1:p.Pro1602Leu
XM_011542831.1:c.4808C>T XP_011541133.1:p.Pro1603Leu
XM_011542832.1:c.2615C>T XP_011541134.1:p.Pro872Leu
XM_011542833.1:c.2291C>T XP_011541135.1:p.Pro764Leu
XM_006718839.3:c.2192C>T XP_006718902.2:p.Pro731Leu
XM_011542829.2:c.4808C>T XP_011541131.1:p.Pro1603Leu
XM_011542830.2:c.4805C>T XP_011541132.1:p.Pro1602Leu
XM_011542831.2:c.4808C>T XP_011541133.1:p.Pro1603Leu
XM_011542833.2:c.2291C>T XP_011541135.1:p.Pro764Leu
NM_001197104.2:c.4709C>T MANE Select NP_001184033.1:p.Pro1570Leu
NM_005933.4:c.4709C>T NP_005924.2:p.Pro1570Leu