Canonical Allele Identifier: CA3057380

Gene: SEC24D

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118797786C>T , CM000666.2:g.118797786C>T	GRCh38
NC_000004.11:g.119718941C>T , CM000666.1:g.119718941C>T	GRCh37
NC_000004.10:g.119938389C>T	NCBI36
NG_042032.1:g.43386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014822.4:c.938G>A MANE Select	NP_055637.2:p.Arg313His
ENST00000280551.11:c.938G>A MANE Select	ENSP00000280551.6:p.Arg313His
NM_001318066.1:c.941G>A	NP_001304995.1:p.Arg314His
NM_001318066.2:c.941G>A	NP_001304995.1:p.Arg314His
NM_014822.2:c.938G>A	NP_055637.2:p.Arg313His
NM_014822.3:c.938G>A	NP_055637.2:p.Arg313His
ENST00000280551.10:c.938G>A	ENSP00000280551.6:p.Arg313His
ENST00000419654.6:c.-395G>A	ENSP00000388324.2:n.-395G>A
ENST00000506622.5:c.*127G>A	ENSP00000427249.1:n.*127G>A
ENST00000509818.5:c.*153G>A	ENSP00000424085.1:n.*153G>A
ENST00000514561.5:c.*912G>A	ENSP00000422717.1:n.*912G>A
XM_005263378.1:c.941G>A	XP_005263435.1:p.Arg314His
XM_005263379.1:c.941G>A	XP_005263436.1:p.Arg314His
XM_005263379.3:c.941G>A	XP_005263436.1:p.Arg314His
XM_011532435.1:c.941G>A	XP_011530737.1:p.Arg314His
XM_011532436.1:c.941G>A	XP_011530738.1:p.Arg314His
XM_017008875.1:c.-690G>A	XP_016864364.1:n.-690G>A
XM_024454293.1:c.938G>A	XP_024310061.1:p.Arg313His