Canonical Allele Identifier: CA1433035904

Gene: DGKQ

Linked Data

• dbSNP Id: rs1712880483
• gnomAD v4: 4-970941-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.970941G>A , CM000666.2:g.970941G>A	GRCh38
NC_000004.11:g.964729G>A , CM000666.1:g.964729G>A	GRCh37
NC_000004.10:g.954729G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273814.8:c.351+52C>T MANE Select	ENSP00000273814.3:n.351+52C>T
ENST00000273814.7:c.351+52C>T	ENSP00000273814.3:n.351+52C>T
ENST00000509465.5:c.191+52C>T
ENST00000510286.1:c.126+52C>T	ENSP00000427268.1:n.126+52C>T
NM_001347.3:c.351+52C>T	NP_001338.2:n.351+52C>T
XM_011513411.1:c.351+52C>T	XP_011511713.1:n.351+52C>T
XM_011513412.1:c.351+52C>T	XP_011511714.1:n.351+52C>T
XM_011513413.1:c.351+52C>T	XP_011511715.1:n.351+52C>T
XM_011513414.1:c.351+52C>T	XP_011511716.1:n.351+52C>T
XM_011513415.1:c.351+52C>T	XP_011511717.1:n.351+52C>T
XM_011513414.2:c.351+52C>T	XP_011511716.1:n.351+52C>T
XM_017007814.1:c.351+52C>T	XP_016863303.1:n.351+52C>T
XM_017007815.1:c.351+52C>T	XP_016863304.1:n.351+52C>T
XR_002959715.1:n.414+52C>T
NM_001347.4:c.351+52C>T MANE Select	NP_001338.2:n.351+52C>T