Canonical Allele Identifier: CA3057057
Gene: SEC24D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118740766T>G , CM000666.2:g.118740766T>G GRCh38
NC_000004.11:g.119661921T>G , CM000666.1:g.119661921T>G GRCh37
NC_000004.10:g.119881369T>G NCBI36
NG_042032.1:g.100406A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014822.4:c.2135A>C MANE Select NP_055637.2:p.Asn712Thr
ENST00000280551.11:c.2135A>C MANE Select ENSP00000280551.6:p.Asn712Thr
NM_001318066.1:c.2138A>C NP_001304995.1:p.Asn713Thr
NM_001318066.2:c.2138A>C NP_001304995.1:p.Asn713Thr
NM_014822.2:c.2135A>C NP_055637.2:p.Asn712Thr
NM_014822.3:c.2135A>C NP_055637.2:p.Asn712Thr
ENST00000280551.10:c.2135A>C ENSP00000280551.6:p.Asn712Thr
ENST00000419654.6:c.803A>C ENSP00000388324.2:p.Asn268Thr
ENST00000505134.5:n.1423A>C
ENST00000511481.5:c.1028A>C ENSP00000425491.1:p.Asn343Thr
ENST00000514561.5:c.*2542A>C ENSP00000422717.1:n.*2542A>C
XM_005263378.1:c.2138A>C XP_005263435.1:p.Asn713Thr
XM_005263379.1:c.2138A>C XP_005263436.1:p.Asn713Thr
XM_005263379.3:c.2138A>C XP_005263436.1:p.Asn713Thr
XM_011532435.1:c.2138A>C XP_011530737.1:p.Asn713Thr
XM_011532436.1:c.2138A>C XP_011530738.1:p.Asn713Thr
XM_011532437.1:c.803A>C XP_011530739.1:p.Asn268Thr
XM_017008875.1:c.803A>C XP_016864364.1:p.Asn268Thr
XM_024454293.1:c.2135A>C XP_024310061.1:p.Asn712Thr