Canonical Allele Identifier: CA358003403

Gene: SEC24D

Linked Data

• ClinVar Variation Id: 1345860
• ClinVar RCV Id: RCV002037605
• dbSNP Id: rs1725254711
• MyVariant Identifiers: chr4:g.119644755A>C (hg19) ; chr4:g.118723600A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118723600A>C , CM000666.2:g.118723600A>C	GRCh38
NC_000004.11:g.119644755A>C , CM000666.1:g.119644755A>C	GRCh37
NC_000004.10:g.119864203A>C	NCBI36
NG_042032.1:g.117572T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280551.11:c.3014T>G MANE Select	ENSP00000280551.6:p.Val1005Gly
ENST00000280551.10:c.3014T>G	ENSP00000280551.6:p.Val1005Gly
ENST00000502830.1:n.343T>G
ENST00000505134.5:n.3145T>G
ENST00000511481.5:c.1907T>G	ENSP00000425491.1:p.Val636Gly
NM_014822.2:c.3014T>G	NP_055637.2:p.Val1005Gly
XM_005263378.1:c.3017T>G	XP_005263435.1:p.Val1006Gly
XM_005263379.1:c.3017T>G	XP_005263436.1:p.Val1006Gly
XM_011532435.1:c.3017T>G	XP_011530737.1:p.Val1006Gly
XM_011532437.1:c.1682T>G	XP_011530739.1:p.Val561Gly
NM_001318066.1:c.3017T>G	NP_001304995.1:p.Val1006Gly
NM_014822.3:c.3014T>G	NP_055637.2:p.Val1005Gly
XM_005263379.3:c.3017T>G	XP_005263436.1:p.Val1006Gly
XM_017008875.1:c.1682T>G	XP_016864364.1:p.Val561Gly
XM_024454293.1:c.3014T>G	XP_024310061.1:p.Val1005Gly
NM_014822.4:c.3014T>G MANE Select	NP_055637.2:p.Val1005Gly
NM_001318066.2:c.3017T>G	NP_001304995.1:p.Val1006Gly