Canonical Allele Identifier: CA3056846

Gene: SEC24D

Linked Data

• ClinVar Variation Id: 716452
• ClinVar RCV Id: RCV000889103 ; RCV003920730
• dbSNP Id: rs201005070
• ExAC: 4:119649805 T / C
• gnomAD v2: 4-119649805-T-C
• gnomAD v3: 4-118728650-T-C
• gnomAD v4: 4-118728650-T-C
• MyVariant Identifiers: chr4:g.119649805T>C (hg19) ; chr4:g.118728650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118728650T>C , CM000666.2:g.118728650T>C	GRCh38
NC_000004.11:g.119649805T>C , CM000666.1:g.119649805T>C	GRCh37
NC_000004.10:g.119869253T>C	NCBI36
NG_042032.1:g.112522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280551.11:c.2869A>G MANE Select	ENSP00000280551.6:p.Thr957Ala
ENST00000280551.10:c.2869A>G	ENSP00000280551.6:p.Thr957Ala
ENST00000502830.1:n.198A>G
ENST00000505134.5:n.3000A>G
ENST00000511481.5:c.1762A>G	ENSP00000425491.1:p.Thr588Ala
NM_014822.2:c.2869A>G	NP_055637.2:p.Thr957Ala
XM_005263378.1:c.2872A>G	XP_005263435.1:p.Thr958Ala
XM_005263379.1:c.2872A>G	XP_005263436.1:p.Thr958Ala
XM_011532435.1:c.2872A>G	XP_011530737.1:p.Thr958Ala
XM_011532437.1:c.1537A>G	XP_011530739.1:p.Thr513Ala
NM_001318066.1:c.2872A>G	NP_001304995.1:p.Thr958Ala
NM_014822.3:c.2869A>G	NP_055637.2:p.Thr957Ala
XM_005263379.3:c.2872A>G	XP_005263436.1:p.Thr958Ala
XM_017008875.1:c.1537A>G	XP_016864364.1:p.Thr513Ala
XM_024454293.1:c.2869A>G	XP_024310061.1:p.Thr957Ala
NM_014822.4:c.2869A>G MANE Select	NP_055637.2:p.Thr957Ala
NM_001318066.2:c.2872A>G	NP_001304995.1:p.Thr958Ala