Canonical Allele Identifier: CA389535180

Gene: SEC23A

Linked Data

• gnomAD v4: 14-39067222-T-A
• MyVariant Identifiers: chr14:g.39536426T>A (hg19) ; chr14:g.39067222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067222T>A , CM000676.2:g.39067222T>A	GRCh38
NC_000014.8:g.39536426T>A , CM000676.1:g.39536426T>A	GRCh37
NC_000014.7:g.38606177T>A	NCBI36
NG_012157.1:g.41012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1178A>T MANE Select	ENSP00000306881.6:p.Asp393Val
ENST00000307712.10:c.1178A>T	ENSP00000306881.6:p.Asp393Val
ENST00000537403.5:c.572A>T	ENSP00000444193.1:p.Asp191Val
ENST00000545328.6:c.1091A>T	ENSP00000445393.2:p.Asp364Val
NM_006364.2:c.1178A>T	NP_006355.2:p.Asp393Val
XM_005267262.1:c.1178A>T	XP_005267319.1:p.Asp393Val
XM_011536355.1:c.1178A>T	XP_011534657.1:p.Asp393Val
NM_006364.3:c.1178A>T	NP_006355.2:p.Asp393Val
XM_005267262.2:c.1178A>T	XP_005267319.1:p.Asp393Val
XM_011536355.3:c.1178A>T	XP_011534657.1:p.Asp393Val
XM_017020928.2:c.1178A>T	XP_016876417.1:p.Asp393Val
NM_006364.4:c.1178A>T MANE Select	NP_006355.2:p.Asp393Val