Canonical Allele Identifier: CA355941745
Gene: DGKQ HGNC NCBI

Linked Data

gnomAD v4: 4-971065-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971065A>C , CM000666.2:g.971065A>C GRCh38
NC_000004.11:g.964853A>C , CM000666.1:g.964853A>C GRCh37
NC_000004.10:g.954853A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.279T>G MANE Select ENSP00000273814.3:p.Asn93Lys
ENST00000273814.7:c.279T>G ENSP00000273814.3:p.Asn93Lys
ENST00000509465.5:c.119T>G
ENST00000510286.1:c.54T>G ENSP00000427268.1:p.Asn18Lys
NM_001347.3:c.279T>G NP_001338.2:p.Asn93Lys
XM_011513411.1:c.279T>G XP_011511713.1:p.Asn93Lys
XM_011513412.1:c.279T>G XP_011511714.1:p.Asn93Lys
XM_011513413.1:c.279T>G XP_011511715.1:p.Asn93Lys
XM_011513414.1:c.279T>G XP_011511716.1:p.Asn93Lys
XM_011513415.1:c.279T>G XP_011511717.1:p.Asn93Lys
XM_011513414.2:c.279T>G XP_011511716.1:p.Asn93Lys
XM_017007814.1:c.279T>G XP_016863303.1:p.Asn93Lys
XM_017007815.1:c.279T>G XP_016863304.1:p.Asn93Lys
XR_002959715.1:n.342T>G
NM_001347.4:c.279T>G MANE Select NP_001338.2:p.Asn93Lys