Canonical Allele Identifier: CA1067231460
Community Standard Title: NM_014822.4(SEC24D):c.2377+29T>C
Gene: SEC24D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118739120A>G , CM000666.2:g.118739120A>G GRCh38
NC_000004.11:g.119660275A>G , CM000666.1:g.119660275A>G GRCh37
NC_000004.10:g.119879723A>G NCBI36
NG_042032.1:g.102052T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014822.4:c.2377+29T>C MANE Select NP_055637.2:n.2377+29T>C
ENST00000280551.11:c.2377+29T>C MANE Select ENSP00000280551.6:n.2377+29T>C
NM_001318066.1:c.2380+29T>C NP_001304995.1:n.2380+29T>C
NM_001318066.2:c.2380+29T>C NP_001304995.1:n.2380+29T>C
NM_014822.2:c.2377+29T>C NP_055637.2:n.2377+29T>C
NM_014822.3:c.2377+29T>C NP_055637.2:n.2377+29T>C
ENST00000280551.10:c.2377+29T>C ENSP00000280551.6:n.2377+29T>C
ENST00000419654.6:c.1045+29T>C ENSP00000388324.2:n.1045+29T>C
ENST00000502526.1:n.75+29T>C
ENST00000505134.5:n.1665+29T>C
ENST00000511481.5:c.1270+29T>C ENSP00000425491.1:n.1270+29T>C
ENST00000514561.5:c.*2784+29T>C ENSP00000422717.1:n.*2784+29T>C
XM_005263378.1:c.2380+29T>C XP_005263435.1:n.2380+29T>C
XM_005263379.1:c.2380+29T>C XP_005263436.1:n.2380+29T>C
XM_005263379.3:c.2380+29T>C XP_005263436.1:n.2380+29T>C
XM_011532435.1:c.2380+29T>C XP_011530737.1:n.2380+29T>C
XM_011532436.1:c.2380+29T>C XP_011530738.1:n.2380+29T>C
XM_011532437.1:c.1045+29T>C XP_011530739.1:n.1045+29T>C
XM_017008875.1:c.1045+29T>C XP_016864364.1:n.1045+29T>C
XM_024454293.1:c.2377+29T>C XP_024310061.1:n.2377+29T>C