Canonical Allele Identifier: CA15726583

Gene: KMT5A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123409283C>T , CM000674.2:g.123409283C>T	GRCh38
NC_000012.11:g.123893830C>T , CM000674.1:g.123893830C>T	GRCh37
NC_000012.10:g.122459783C>T	NCBI36
NG_050615.1:g.30506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402868.8:c.*1580C>T MANE Select	ENSP00000384629.3:n.*1580C>T
ENST00000330479.8:c.*1516C>T	ENSP00000332995.5:n.*1516C>T
ENST00000402868.7:c.*1580C>T	ENSP00000384629.3:n.*1580C>T
NM_020382.3:c.*1580C>T	NP_065115.3:n.*1580C>T
XM_006719394.2:c.*1580C>T	XP_006719457.1:n.*1580C>T
XM_011538332.1:c.*1580C>T	XP_011536634.1:n.*1580C>T
XM_011538333.1:c.*1580C>T	XP_011536635.1:n.*1580C>T
NM_001324504.1:c.*1580C>T	NP_001311433.1:n.*1580C>T
NM_001324505.1:c.*1580C>T	NP_001311434.1:n.*1580C>T
NM_001324506.1:c.*1580C>T	NP_001311435.1:n.*1580C>T
NM_020382.4:c.*1580C>T	NP_065115.3:n.*1580C>T
NR_136910.1:n.2835C>T
XM_006719394.3:c.*1580C>T	XP_006719457.1:n.*1580C>T
NM_001367386.1:c.*1580C>T	NP_001354315.1:n.*1580C>T
NM_001367388.1:c.*1580C>T	NP_001354317.1:n.*1580C>T
NM_001367389.1:c.*1580C>T	NP_001354318.1:n.*1580C>T
NM_020382.7:c.*1580C>T MANE Select	NP_065115.3:n.*1580C>T
NM_001324504.2:c.*1580C>T	NP_001311433.1:n.*1580C>T
NM_001324505.2:c.*1580C>T	NP_001311434.1:n.*1580C>T
NR_136910.2:n.2819C>T
NM_001324506.2:c.*1580C>T	NP_001311435.1:n.*1580C>T
NM_001367386.2:c.*1580C>T	NP_001354315.1:n.*1580C>T
NM_001367388.2:c.*1580C>T	NP_001354317.1:n.*1580C>T
NM_001367389.2:c.*1580C>T	NP_001354318.1:n.*1580C>T