Canonical Allele Identifier: CA3057506

Gene: SEC24D

Linked Data

• dbSNP Id: rs772582210
• ExAC: 4:119736678 G / C
• gnomAD v2: 4-119736678-G-C
• gnomAD v4: 4-118815523-G-C
• MyVariant Identifiers: chr4:g.119736678G>C (hg19) ; chr4:g.118815523G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118815523G>C , CM000666.2:g.118815523G>C	GRCh38
NC_000004.11:g.119736678G>C , CM000666.1:g.119736678G>C	GRCh37
NC_000004.10:g.119956126G>C	NCBI36
NG_042032.1:g.25649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280551.11:c.601C>G MANE Select	ENSP00000280551.6:p.Pro201Ala
ENST00000280551.10:c.601C>G	ENSP00000280551.6:p.Pro201Ala
ENST00000419654.6:c.-732C>G	ENSP00000388324.2:n.-732C>G
ENST00000506622.5:c.708C>G	ENSP00000427249.1:p.Leu236=
ENST00000509818.5:c.452C>G	ENSP00000424085.1:p.Ser151Cys
ENST00000514561.5:c.*575C>G	ENSP00000422717.1:n.*575C>G
NM_014822.2:c.601C>G	NP_055637.2:p.Pro201Ala
XM_005263378.1:c.601C>G	XP_005263435.1:p.Pro201Ala
XM_005263379.1:c.601C>G	XP_005263436.1:p.Pro201Ala
XM_011532435.1:c.601C>G	XP_011530737.1:p.Pro201Ala
XM_011532436.1:c.601C>G	XP_011530738.1:p.Pro201Ala
NM_001318066.1:c.601C>G	NP_001304995.1:p.Pro201Ala
NM_014822.3:c.601C>G	NP_055637.2:p.Pro201Ala
XM_005263379.3:c.601C>G	XP_005263436.1:p.Pro201Ala
XM_024454293.1:c.601C>G	XP_024310061.1:p.Pro201Ala
NM_014822.4:c.601C>G MANE Select	NP_055637.2:p.Pro201Ala
NM_001318066.2:c.601C>G	NP_001304995.1:p.Pro201Ala