Canonical Allele Identifier: CA358005725

Gene: SEC24D

Linked Data

• ClinVar Variation Id: 1948481
• ClinVar RCV Id: RCV002685769
• gnomAD v4: 4-118738299-A-T
• MyVariant Identifiers: chr4:g.119659454A>T (hg19) ; chr4:g.118738299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118738299A>T , CM000666.2:g.118738299A>T	GRCh38
NC_000004.11:g.119659454A>T , CM000666.1:g.119659454A>T	GRCh37
NC_000004.10:g.119878902A>T	NCBI36
NG_042032.1:g.102873T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280551.11:c.2458T>A MANE Select	ENSP00000280551.6:p.Tyr820Asn
ENST00000280551.10:c.2458T>A	ENSP00000280551.6:p.Tyr820Asn
ENST00000419654.6:c.1126T>A	ENSP00000388324.2:p.Tyr376Asn
ENST00000502526.1:n.156T>A
ENST00000505134.5:n.1746T>A
ENST00000511481.5:c.1351T>A	ENSP00000425491.1:p.Tyr451Asn
ENST00000514561.5:c.*2865T>A	ENSP00000422717.1:n.*2865T>A
NM_014822.2:c.2458T>A	NP_055637.2:p.Tyr820Asn
XM_005263378.1:c.2461T>A	XP_005263435.1:p.Tyr821Asn
XM_005263379.1:c.2461T>A	XP_005263436.1:p.Tyr821Asn
XM_011532435.1:c.2461T>A	XP_011530737.1:p.Tyr821Asn
XM_011532436.1:c.2461T>A	XP_011530738.1:p.Tyr821Asn
XM_011532437.1:c.1126T>A	XP_011530739.1:p.Tyr376Asn
NM_001318066.1:c.2461T>A	NP_001304995.1:p.Tyr821Asn
NM_014822.3:c.2458T>A	NP_055637.2:p.Tyr820Asn
XM_005263379.3:c.2461T>A	XP_005263436.1:p.Tyr821Asn
XM_017008875.1:c.1126T>A	XP_016864364.1:p.Tyr376Asn
XM_024454293.1:c.2458T>A	XP_024310061.1:p.Tyr820Asn
NM_014822.4:c.2458T>A MANE Select	NP_055637.2:p.Tyr820Asn
NM_001318066.2:c.2461T>A	NP_001304995.1:p.Tyr821Asn