Canonical Allele Identifier: CA104658243

Gene: SEC24D

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118815642G>A , CM000666.2:g.118815642G>A	GRCh38
NC_000004.11:g.119736797G>A , CM000666.1:g.119736797G>A	GRCh37
NC_000004.10:g.119956245G>A	NCBI36
NG_042032.1:g.25530C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014822.4:c.482C>T MANE Select	NP_055637.2:p.Pro161Leu
ENST00000280551.11:c.482C>T MANE Select	ENSP00000280551.6:p.Pro161Leu
NM_001318066.1:c.482C>T	NP_001304995.1:p.Pro161Leu
NM_001318066.2:c.482C>T	NP_001304995.1:p.Pro161Leu
NM_014822.2:c.482C>T	NP_055637.2:p.Pro161Leu
NM_014822.3:c.482C>T	NP_055637.2:p.Pro161Leu
ENST00000280551.10:c.482C>T	ENSP00000280551.6:p.Pro161Leu
ENST00000419654.6:c.-851C>T	ENSP00000388324.2:n.-851C>T
ENST00000503683.1:c.482C>T	ENSP00000426309.1:p.Pro161Leu
ENST00000506622.5:c.589C>T	ENSP00000427249.1:p.Leu197Phe
ENST00000509818.5:c.333C>T	ENSP00000424085.1:p.Ala111=
ENST00000514561.5:c.*456C>T	ENSP00000422717.1:n.*456C>T
XM_005263378.1:c.482C>T	XP_005263435.1:p.Pro161Leu
XM_005263379.1:c.482C>T	XP_005263436.1:p.Pro161Leu
XM_005263379.3:c.482C>T	XP_005263436.1:p.Pro161Leu
XM_011532435.1:c.482C>T	XP_011530737.1:p.Pro161Leu
XM_011532436.1:c.482C>T	XP_011530738.1:p.Pro161Leu
XM_024454293.1:c.482C>T	XP_024310061.1:p.Pro161Leu