Canonical Allele Identifier: CA3057501

Gene: SEC24D

Linked Data

• dbSNP Id: rs749516412
• ExAC: 4:119736667 G / A
• gnomAD v2: 4-119736667-G-A
• gnomAD v3: 4-118815512-G-A
• gnomAD v4: 4-118815512-G-A
• MyVariant Identifiers: chr4:g.119736667G>A (hg19) ; chr4:g.118815512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118815512G>A , CM000666.2:g.118815512G>A	GRCh38
NC_000004.11:g.119736667G>A , CM000666.1:g.119736667G>A	GRCh37
NC_000004.10:g.119956115G>A	NCBI36
NG_042032.1:g.25660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280551.11:c.612C>T MANE Select	ENSP00000280551.6:p.Ala204=
ENST00000280551.10:c.612C>T	ENSP00000280551.6:p.Ala204=
ENST00000419654.6:c.-721C>T	ENSP00000388324.2:n.-721C>T
ENST00000506622.5:c.719C>T	ENSP00000427249.1:p.Pro240Leu
ENST00000509818.5:c.463C>T	ENSP00000424085.1:p.Pro155Ser
ENST00000514561.5:c.*586C>T	ENSP00000422717.1:n.*586C>T
NM_014822.2:c.612C>T	NP_055637.2:p.Ala204=
XM_005263378.1:c.612C>T	XP_005263435.1:p.Ala204=
XM_005263379.1:c.612C>T	XP_005263436.1:p.Ala204=
XM_011532435.1:c.612C>T	XP_011530737.1:p.Ala204=
XM_011532436.1:c.612C>T	XP_011530738.1:p.Ala204=
NM_001318066.1:c.612C>T	NP_001304995.1:p.Ala204=
NM_014822.3:c.612C>T	NP_055637.2:p.Ala204=
XM_005263379.3:c.612C>T	XP_005263436.1:p.Ala204=
XM_024454293.1:c.612C>T	XP_024310061.1:p.Ala204=
NM_014822.4:c.612C>T MANE Select	NP_055637.2:p.Ala204=
NM_001318066.2:c.612C>T	NP_001304995.1:p.Ala204=