Canonical Allele Identifier: CA3056962
Community Standard Title: NM_014822.4(SEC24D):c.2496+31G>A
Gene: SEC24D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118738230C>T , CM000666.2:g.118738230C>T GRCh38
NC_000004.11:g.119659385C>T , CM000666.1:g.119659385C>T GRCh37
NC_000004.10:g.119878833C>T NCBI36
NG_042032.1:g.102942G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014822.4:c.2496+31G>A MANE Select NP_055637.2:n.2496+31G>A
ENST00000280551.11:c.2496+31G>A MANE Select ENSP00000280551.6:n.2496+31G>A
NM_001318066.1:c.2499+31G>A NP_001304995.1:n.2499+31G>A
NM_001318066.2:c.2499+31G>A NP_001304995.1:n.2499+31G>A
NM_014822.2:c.2496+31G>A NP_055637.2:n.2496+31G>A
NM_014822.3:c.2496+31G>A NP_055637.2:n.2496+31G>A
ENST00000280551.10:c.2496+31G>A ENSP00000280551.6:n.2496+31G>A
ENST00000419654.6:c.1164+31G>A ENSP00000388324.2:n.1164+31G>A
ENST00000502526.1:n.225G>A
ENST00000505134.5:n.1784+31G>A
ENST00000511481.5:c.1389+31G>A ENSP00000425491.1:n.1389+31G>A
ENST00000514561.5:c.*2903+31G>A ENSP00000422717.1:n.*2903+31G>A
XM_005263378.1:c.2499+31G>A XP_005263435.1:n.2499+31G>A
XM_005263379.1:c.2499+31G>A XP_005263436.1:n.2499+31G>A
XM_005263379.3:c.2499+31G>A XP_005263436.1:n.2499+31G>A
XM_011532435.1:c.2499+31G>A XP_011530737.1:n.2499+31G>A
XM_011532436.1:c.2499+31G>A XP_011530738.1:n.2499+31G>A
XM_011532437.1:c.1164+31G>A XP_011530739.1:n.1164+31G>A
XM_017008875.1:c.1164+31G>A XP_016864364.1:n.1164+31G>A
XM_024454293.1:c.2496+31G>A XP_024310061.1:n.2496+31G>A