Canonical Allele Identifier: CA7161920

Gene: SEC23A

Linked Data

• ClinVar Variation Id: 725412
• ClinVar RCV Id: RCV002065679
• dbSNP Id: rs140246467
• ExAC: 14:39536389 C / T
• gnomAD v2: 14-39536389-C-T
• gnomAD v3: 14-39067185-C-T
• gnomAD v4: 14-39067185-C-T
• MyVariant Identifiers: chr14:g.39536389C>T (hg19) ; chr14:g.39067185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067185C>T , CM000676.2:g.39067185C>T	GRCh38
NC_000014.8:g.39536389C>T , CM000676.1:g.39536389C>T	GRCh37
NC_000014.7:g.38606140C>T	NCBI36
NG_012157.1:g.41049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1215G>A MANE Select	ENSP00000306881.6:p.Thr405=
ENST00000307712.10:c.1215G>A	ENSP00000306881.6:p.Thr405=
ENST00000537403.5:c.609G>A	ENSP00000444193.1:p.Thr203=
ENST00000545328.6:c.1128G>A	ENSP00000445393.2:p.Thr376=
ENST00000553925.1:n.27G>A
NM_006364.2:c.1215G>A	NP_006355.2:p.Thr405=
XM_005267262.1:c.1215G>A	XP_005267319.1:p.Thr405=
XM_011536355.1:c.1215G>A	XP_011534657.1:p.Thr405=
NM_006364.3:c.1215G>A	NP_006355.2:p.Thr405=
XM_005267262.2:c.1215G>A	XP_005267319.1:p.Thr405=
XM_011536355.3:c.1215G>A	XP_011534657.1:p.Thr405=
XM_017020928.2:c.1215G>A	XP_016876417.1:p.Thr405=
NM_006364.4:c.1215G>A MANE Select	NP_006355.2:p.Thr405=