Canonical Allele Identifier: CA3057020
Gene: SEC24D HGNC NCBI
ClinVar RCV:
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118739270C>T , CM000666.2:g.118739270C>T GRCh38
NC_000004.11:g.119660425C>T , CM000666.1:g.119660425C>T GRCh37
NC_000004.10:g.119879873C>T NCBI36
NG_042032.1:g.101902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000280551.11:c.2256G>A MANE Select ENSP00000280551.6:p.Thr752=
ENST00000280551.10:c.2256G>A ENSP00000280551.6:p.Thr752=
ENST00000419654.6:c.924G>A ENSP00000388324.2:p.Thr308=
ENST00000505134.5:n.1544G>A
ENST00000511481.5:c.1149G>A ENSP00000425491.1:p.Thr383=
ENST00000514561.5:c.*2663G>A ENSP00000422717.1:n.*2663G>A
NM_014822.2:c.2256G>A NP_055637.2:p.Thr752=
XM_005263378.1:c.2259G>A XP_005263435.1:p.Thr753=
XM_005263379.1:c.2259G>A XP_005263436.1:p.Thr753=
XM_011532435.1:c.2259G>A XP_011530737.1:p.Thr753=
XM_011532436.1:c.2259G>A XP_011530738.1:p.Thr753=
XM_011532437.1:c.924G>A XP_011530739.1:p.Thr308=
NM_001318066.1:c.2259G>A NP_001304995.1:p.Thr753=
NM_014822.3:c.2256G>A NP_055637.2:p.Thr752=
XM_005263379.3:c.2259G>A XP_005263436.1:p.Thr753=
XM_017008875.1:c.924G>A XP_016864364.1:p.Thr308=
XM_024454293.1:c.2256G>A XP_024310061.1:p.Thr752=
NM_014822.4:c.2256G>A MANE Select NP_055637.2:p.Thr752=
NM_001318066.2:c.2259G>A NP_001304995.1:p.Thr753=