Canonical Allele Identifier: CA3057220

Gene: SEC24D

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118752734G>A , CM000666.2:g.118752734G>A	GRCh38
NC_000004.11:g.119673889G>A , CM000666.1:g.119673889G>A	GRCh37
NC_000004.10:g.119893337G>A	NCBI36
NG_042032.1:g.88438C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014822.4:c.1576C>T MANE Select	NP_055637.2:p.Leu526Phe
ENST00000280551.11:c.1576C>T MANE Select	ENSP00000280551.6:p.Leu526Phe
NM_001318066.1:c.1579C>T	NP_001304995.1:p.Leu527Phe
NM_001318066.2:c.1579C>T	NP_001304995.1:p.Leu527Phe
NM_014822.2:c.1576C>T	NP_055637.2:p.Leu526Phe
NM_014822.3:c.1576C>T	NP_055637.2:p.Leu526Phe
ENST00000280551.10:c.1576C>T	ENSP00000280551.6:p.Leu526Phe
ENST00000419654.6:c.244C>T	ENSP00000388324.2:p.Leu82Phe
ENST00000505134.5:n.864C>T
ENST00000511033.1:n.243C>T
ENST00000511481.5:c.469C>T	ENSP00000425491.1:p.Leu157Phe
ENST00000514561.5:c.*1983C>T	ENSP00000422717.1:n.*1983C>T
XM_005263378.1:c.1579C>T	XP_005263435.1:p.Leu527Phe
XM_005263379.1:c.1579C>T	XP_005263436.1:p.Leu527Phe
XM_005263379.3:c.1579C>T	XP_005263436.1:p.Leu527Phe
XM_011532435.1:c.1579C>T	XP_011530737.1:p.Leu527Phe
XM_011532436.1:c.1579C>T	XP_011530738.1:p.Leu527Phe
XM_011532437.1:c.244C>T	XP_011530739.1:p.Leu82Phe
XM_017008875.1:c.244C>T	XP_016864364.1:p.Leu82Phe
XM_024454293.1:c.1576C>T	XP_024310061.1:p.Leu526Phe