Canonical Allele Identifier: CA486103591

Gene: SEC23A

Linked Data

• dbSNP Id: rs1886700702
• gnomAD v4: 14-39067248-T-C
• MyVariant Identifiers: chr14:g.39536452T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067248T>C , CM000676.2:g.39067248T>C	GRCh38
NC_000014.8:g.39536452T>C , CM000676.1:g.39536452T>C	GRCh37
NC_000014.7:g.38606203T>C	NCBI36
NG_012157.1:g.40986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1152A>G MANE Select	ENSP00000306881.6:p.Gln384=
ENST00000307712.10:c.1152A>G	ENSP00000306881.6:p.Gln384=
ENST00000537403.5:c.546A>G	ENSP00000444193.1:p.Gln182=
ENST00000545328.6:c.1065A>G	ENSP00000445393.2:p.Gln355=
NM_006364.2:c.1152A>G	NP_006355.2:p.Gln384=
XM_005267262.1:c.1152A>G	XP_005267319.1:p.Gln384=
XM_011536355.1:c.1152A>G	XP_011534657.1:p.Gln384=
NM_006364.3:c.1152A>G	NP_006355.2:p.Gln384=
XM_005267262.2:c.1152A>G	XP_005267319.1:p.Gln384=
XM_011536355.3:c.1152A>G	XP_011534657.1:p.Gln384=
XM_017020928.2:c.1152A>G	XP_016876417.1:p.Gln384=
NM_006364.4:c.1152A>G MANE Select	NP_006355.2:p.Gln384=