Canonical Allele Identifier: CA358015488

Gene: SEC24D

Linked Data

• gnomAD v4: 4-118815516-T-C
• MyVariant Identifiers: chr4:g.119736671T>C (hg19) ; chr4:g.118815516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118815516T>C , CM000666.2:g.118815516T>C	GRCh38
NC_000004.11:g.119736671T>C , CM000666.1:g.119736671T>C	GRCh37
NC_000004.10:g.119956119T>C	NCBI36
NG_042032.1:g.25656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280551.11:c.608A>G MANE Select	ENSP00000280551.6:p.Asn203Ser
ENST00000280551.10:c.608A>G	ENSP00000280551.6:p.Asn203Ser
ENST00000419654.6:c.-725A>G	ENSP00000388324.2:n.-725A>G
ENST00000506622.5:c.715A>G	ENSP00000427249.1:p.Met239Val
ENST00000509818.5:c.459A>G	ENSP00000424085.1:p.Lys153=
ENST00000514561.5:c.*582A>G	ENSP00000422717.1:n.*582A>G
NM_014822.2:c.608A>G	NP_055637.2:p.Asn203Ser
XM_005263378.1:c.608A>G	XP_005263435.1:p.Asn203Ser
XM_005263379.1:c.608A>G	XP_005263436.1:p.Asn203Ser
XM_011532435.1:c.608A>G	XP_011530737.1:p.Asn203Ser
XM_011532436.1:c.608A>G	XP_011530738.1:p.Asn203Ser
NM_001318066.1:c.608A>G	NP_001304995.1:p.Asn203Ser
NM_014822.3:c.608A>G	NP_055637.2:p.Asn203Ser
XM_005263379.3:c.608A>G	XP_005263436.1:p.Asn203Ser
XM_024454293.1:c.608A>G	XP_024310061.1:p.Asn203Ser
NM_014822.4:c.608A>G MANE Select	NP_055637.2:p.Asn203Ser
NM_001318066.2:c.608A>G	NP_001304995.1:p.Asn203Ser