Canonical Allele Identifier: CA613543163

Gene: SEC23A

Linked Data

• dbSNP Id: rs1381673861
• gnomAD v2: 14-39536463-AG-A
• gnomAD v4: 14-39067259-AG-A
• MyVariant Identifiers: chr14:g.39536464del (hg19) ; chr14:g.39067260del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067261del , CM000676.2:g.39067261del	GRCh38
NC_000014.8:g.39536465del , CM000676.1:g.39536465del	GRCh37
NC_000014.7:g.38606216del	NCBI36
NG_012157.1:g.40974del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307712.11:c.1140del MANE Select	ENSP00000306881.6:p.Leu381TyrfsTer26
ENST00000307712.10:c.1140del	ENSP00000306881.6:p.Leu381TyrfsTer26
ENST00000537403.5:c.534del	ENSP00000444193.1:p.Leu179TyrfsTer26
ENST00000545328.6:c.1053del	ENSP00000445393.2:p.Leu352TyrfsTer26
NM_006364.2:c.1140del	NP_006355.2:p.Leu381TyrfsTer26
XM_005267262.1:c.1140del	XP_005267319.1:p.Leu381TyrfsTer26
XM_011536355.1:c.1140del	XP_011534657.1:p.Leu381TyrfsTer26
NM_006364.3:c.1140del	NP_006355.2:p.Leu381TyrfsTer26
XM_005267262.2:c.1140del	XP_005267319.1:p.Leu381TyrfsTer26
XM_011536355.3:c.1140del	XP_011534657.1:p.Leu381TyrfsTer26
XM_017020928.2:c.1140del	XP_016876417.1:p.Leu381TyrfsTer26
NM_006364.4:c.1140del MANE Select	NP_006355.2:p.Leu381TyrfsTer26