Canonical Allele Identifier: CA174685

Gene: KMT5A

Linked Data

• ClinVar Variation Id: 161732
• ClinVar RCV Id: RCV000149268
• dbSNP Id: rs193920812
• gnomAD v4: 12-123395044-C-A
• COSMIC: COSM3703936
• MyVariant Identifiers: chr12:g.123879591C>A (hg19) ; chr12:g.123395044C>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123395044C>A , CM000674.2:g.123395044C>A	GRCh38
NC_000012.11:g.123879591C>A , CM000674.1:g.123879591C>A	GRCh37
NC_000012.10:g.122445544C>A	NCBI36
NG_050615.1:g.16267C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402868.8:c.290-3C>A MANE Select	ENSP00000384629.3:n.290-3C>A
ENST00000330479.8:c.200-3C>A	ENSP00000332995.5:n.200-3C>A
ENST00000402868.7:c.290-3C>A	ENSP00000384629.3:n.290-3C>A
ENST00000437502.1:c.263-3C>A	ENSP00000413811.1:n.263-3C>A
ENST00000437519.5:c.168-3C>A	ENSP00000406830.1:n.168-3C>A
ENST00000461103.5:n.442-3C>A
ENST00000478781.6:n.441-3C>A
ENST00000485469.1:n.52-3C>A
NM_020382.3:c.290-3C>A	NP_065115.3:n.290-3C>A
XM_006719394.2:c.179-3C>A	XP_006719457.1:n.179-3C>A
XM_011538332.1:c.272-3C>A	XP_011536634.1:n.272-3C>A
XM_011538333.1:c.119-3C>A	XP_011536635.1:n.119-3C>A
XR_944546.1:n.341-3C>A
NM_001324504.1:c.200-3C>A	NP_001311433.1:n.200-3C>A
NM_001324505.1:c.119-3C>A	NP_001311434.1:n.119-3C>A
NM_001324506.1:c.-35-3C>A	NP_001311435.1:n.-35-3C>A
NM_020382.4:c.290-3C>A	NP_065115.3:n.290-3C>A
NR_136910.1:n.373-3C>A
XM_006719394.3:c.179-3C>A	XP_006719457.1:n.179-3C>A
NM_001367386.1:c.272-3C>A	NP_001354315.1:n.272-3C>A
NM_001367388.1:c.179-3C>A	NP_001354317.1:n.179-3C>A
NM_001367389.1:c.-35-3C>A	NP_001354318.1:n.-35-3C>A
NM_020382.7:c.290-3C>A MANE Select	NP_065115.3:n.290-3C>A
NM_001324504.2:c.200-3C>A	NP_001311433.1:n.200-3C>A
NM_001324505.2:c.119-3C>A	NP_001311434.1:n.119-3C>A
NR_136910.2:n.357-3C>A
NM_001324506.2:c.-35-3C>A	NP_001311435.1:n.-35-3C>A
NM_001367386.2:c.272-3C>A	NP_001354315.1:n.272-3C>A
NM_001367388.2:c.179-3C>A	NP_001354317.1:n.179-3C>A
NM_001367389.2:c.-35-3C>A	NP_001354318.1:n.-35-3C>A