Canonical Allele Identifier: CA1030049327

Gene: CAMKMT

Linked Data

• dbSNP Id: rs1666164598
• gnomAD v3: 2-44435318-A-T
• gnomAD v4: 2-44435318-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44435318A>T , CM000664.2:g.44435318A>T	GRCh38
NC_000002.11:g.44662457A>T , CM000664.1:g.44662457A>T	GRCh37
NC_000002.10:g.44515961A>T	NCBI36
NG_032944.1:g.78415A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378494.8:c.376+45013A>T MANE Select	ENSP00000367755.3:n.376+45013A>T
ENST00000378494.7:c.376+45013A>T	ENSP00000367755.3:n.376+45013A>T
ENST00000402247.5:c.376+45013A>T	ENSP00000385587.1:n.376+45013A>T
ENST00000403853.7:c.377-21250A>T	ENSP00000385124.3:n.377-21250A>T
ENST00000407131.5:c.376+45013A>T	ENSP00000384039.1:n.376+45013A>T
ENST00000428993.1:c.206+45013A>T
NM_024766.4:c.376+45013A>T	NP_079042.1:n.376+45013A>T
XM_011533111.1:c.376+45013A>T	XP_011531413.1:n.376+45013A>T
XM_011533112.1:c.376+45013A>T	XP_011531414.1:n.376+45013A>T
XR_939721.1:n.446+45013A>T
XR_939722.1:n.446+45013A>T
XR_939723.1:n.446+45013A>T
XM_011533111.2:c.376+45013A>T	XP_011531413.1:n.376+45013A>T
XM_017004971.1:c.661+45013A>T	XP_016860460.1:n.661+45013A>T
XM_017004975.1:c.662-6623A>T	XP_016860464.1:n.662-6623A>T
XM_017004976.1:c.661+45013A>T	XP_016860465.1:n.661+45013A>T
XM_017004977.1:c.662-21250A>T	XP_016860466.1:n.662-21250A>T
XM_017004978.1:c.662-21250A>T	XP_016860467.1:n.662-21250A>T
XM_017004980.1:c.662-40463A>T	XP_016860469.1:n.662-40463A>T
XM_017004981.1:c.662-8274A>T	XP_016860470.1:n.662-8274A>T
XR_001738949.2:n.446+45013A>T
XR_001738950.1:n.670+45013A>T
XR_001738953.1:n.671-6623A>T
XR_939722.2:n.446+45013A>T
NM_024766.5:c.376+45013A>T MANE Select	NP_079042.1:n.376+45013A>T