Canonical Allele Identifier: CA389535081

Gene: SEC23A

Linked Data

• dbSNP Id: rs1354768674
• gnomAD v3: 14-39067178-T-C
• gnomAD v4: 14-39067178-T-C
• MyVariant Identifiers: chr14:g.39536382T>C (hg19) ; chr14:g.39067178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067178T>C , CM000676.2:g.39067178T>C	GRCh38
NC_000014.8:g.39536382T>C , CM000676.1:g.39536382T>C	GRCh37
NC_000014.7:g.38606133T>C	NCBI36
NG_012157.1:g.41056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1222A>G MANE Select	ENSP00000306881.6:p.Ile408Val
ENST00000307712.10:c.1222A>G	ENSP00000306881.6:p.Ile408Val
ENST00000537403.5:c.616A>G	ENSP00000444193.1:p.Ile206Val
ENST00000545328.6:c.1135A>G	ENSP00000445393.2:p.Ile379Val
ENST00000553925.1:n.34A>G
NM_006364.2:c.1222A>G	NP_006355.2:p.Ile408Val
XM_005267262.1:c.1222A>G	XP_005267319.1:p.Ile408Val
XM_011536355.1:c.1222A>G	XP_011534657.1:p.Ile408Val
NM_006364.3:c.1222A>G	NP_006355.2:p.Ile408Val
XM_005267262.2:c.1222A>G	XP_005267319.1:p.Ile408Val
XM_011536355.3:c.1222A>G	XP_011534657.1:p.Ile408Val
XM_017020928.2:c.1222A>G	XP_016876417.1:p.Ile408Val
NM_006364.4:c.1222A>G MANE Select	NP_006355.2:p.Ile408Val