Canonical Allele Identifier: CA104644787

Gene: SEC24D

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118797469C>T , CM000666.2:g.118797469C>T	GRCh38
NC_000004.11:g.119718624C>T , CM000666.1:g.119718624C>T	GRCh37
NC_000004.10:g.119938072C>T	NCBI36
NG_042032.1:g.43703G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014822.4:c.1041+214G>A MANE Select	NP_055637.2:n.1041+214G>A
ENST00000280551.11:c.1041+214G>A MANE Select	ENSP00000280551.6:n.1041+214G>A
NM_001318066.1:c.1044+214G>A	NP_001304995.1:n.1044+214G>A
NM_001318066.2:c.1044+214G>A	NP_001304995.1:n.1044+214G>A
NM_014822.2:c.1041+214G>A	NP_055637.2:n.1041+214G>A
NM_014822.3:c.1041+214G>A	NP_055637.2:n.1041+214G>A
ENST00000280551.10:c.1041+214G>A	ENSP00000280551.6:n.1041+214G>A
ENST00000419654.6:c.-292+214G>A	ENSP00000388324.2:n.-292+214G>A
ENST00000509818.5:c.*256+214G>A	ENSP00000424085.1:n.*256+214G>A
ENST00000514561.5:c.*1015+214G>A	ENSP00000422717.1:n.*1015+214G>A
XM_005263378.1:c.1044+214G>A	XP_005263435.1:n.1044+214G>A
XM_005263379.1:c.1044+214G>A	XP_005263436.1:n.1044+214G>A
XM_005263379.3:c.1044+214G>A	XP_005263436.1:n.1044+214G>A
XM_011532435.1:c.1044+214G>A	XP_011530737.1:n.1044+214G>A
XM_011532436.1:c.1044+214G>A	XP_011530738.1:n.1044+214G>A
XM_017008875.1:c.-587+214G>A	XP_016864364.1:n.-587+214G>A
XM_024454293.1:c.1041+214G>A	XP_024310061.1:n.1041+214G>A