Canonical Allele Identifier: CA358015500

Gene: SEC24D

Linked Data

• MyVariant Identifiers: chr4:g.119736677G>T (hg19) ; chr4:g.118815522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118815522G>T , CM000666.2:g.118815522G>T	GRCh38
NC_000004.11:g.119736677G>T , CM000666.1:g.119736677G>T	GRCh37
NC_000004.10:g.119956125G>T	NCBI36
NG_042032.1:g.25650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280551.11:c.602C>A MANE Select	ENSP00000280551.6:p.Pro201His
ENST00000280551.10:c.602C>A	ENSP00000280551.6:p.Pro201His
ENST00000419654.6:c.-731C>A	ENSP00000388324.2:n.-731C>A
ENST00000506622.5:c.709C>A	ENSP00000427249.1:p.Leu237Ile
ENST00000509818.5:c.453C>A	ENSP00000424085.1:p.Ser151=
ENST00000514561.5:c.*576C>A	ENSP00000422717.1:n.*576C>A
NM_014822.2:c.602C>A	NP_055637.2:p.Pro201His
XM_005263378.1:c.602C>A	XP_005263435.1:p.Pro201His
XM_005263379.1:c.602C>A	XP_005263436.1:p.Pro201His
XM_011532435.1:c.602C>A	XP_011530737.1:p.Pro201His
XM_011532436.1:c.602C>A	XP_011530738.1:p.Pro201His
NM_001318066.1:c.602C>A	NP_001304995.1:p.Pro201His
NM_014822.3:c.602C>A	NP_055637.2:p.Pro201His
XM_005263379.3:c.602C>A	XP_005263436.1:p.Pro201His
XM_024454293.1:c.602C>A	XP_024310061.1:p.Pro201His
NM_014822.4:c.602C>A MANE Select	NP_055637.2:p.Pro201His
NM_001318066.2:c.602C>A	NP_001304995.1:p.Pro201His