Canonical Allele Identifier: CA259543429

Gene: SEC23A

Linked Data

• dbSNP Id: rs972372989
• gnomAD v4: 14-39067228-G-A
• MyVariant Identifiers: chr14:g.39536432G>A (hg19) ; chr14:g.39067228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067228G>A , CM000676.2:g.39067228G>A	GRCh38
NC_000014.8:g.39536432G>A , CM000676.1:g.39536432G>A	GRCh37
NC_000014.7:g.38606183G>A	NCBI36
NG_012157.1:g.41006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1172C>T MANE Select	ENSP00000306881.6:p.Thr391Ile
ENST00000307712.10:c.1172C>T	ENSP00000306881.6:p.Thr391Ile
ENST00000537403.5:c.566C>T	ENSP00000444193.1:p.Thr189Ile
ENST00000545328.6:c.1085C>T	ENSP00000445393.2:p.Thr362Ile
NM_006364.2:c.1172C>T	NP_006355.2:p.Thr391Ile
XM_005267262.1:c.1172C>T	XP_005267319.1:p.Thr391Ile
XM_011536355.1:c.1172C>T	XP_011534657.1:p.Thr391Ile
NM_006364.3:c.1172C>T	NP_006355.2:p.Thr391Ile
XM_005267262.2:c.1172C>T	XP_005267319.1:p.Thr391Ile
XM_011536355.3:c.1172C>T	XP_011534657.1:p.Thr391Ile
XM_017020928.2:c.1172C>T	XP_016876417.1:p.Thr391Ile
NM_006364.4:c.1172C>T MANE Select	NP_006355.2:p.Thr391Ile