Canonical Allele Identifier: CA389535075

Gene: SEC23A

Linked Data

• dbSNP Id: rs1411215820
• gnomAD v2: 14-39536379-T-G
• gnomAD v3: 14-39067175-T-G
• gnomAD v4: 14-39067175-T-G
• MyVariant Identifiers: chr14:g.39536379T>G (hg19) ; chr14:g.39067175T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067175T>G , CM000676.2:g.39067175T>G	GRCh38
NC_000014.8:g.39536379T>G , CM000676.1:g.39536379T>G	GRCh37
NC_000014.7:g.38606130T>G	NCBI36
NG_012157.1:g.41059A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1225A>C MANE Select	ENSP00000306881.6:p.Lys409Gln
ENST00000307712.10:c.1225A>C	ENSP00000306881.6:p.Lys409Gln
ENST00000537403.5:c.619A>C	ENSP00000444193.1:p.Lys207Gln
ENST00000545328.6:c.1138A>C	ENSP00000445393.2:p.Lys380Gln
ENST00000553925.1:n.37A>C
NM_006364.2:c.1225A>C	NP_006355.2:p.Lys409Gln
XM_005267262.1:c.1225A>C	XP_005267319.1:p.Lys409Gln
XM_011536355.1:c.1225A>C	XP_011534657.1:p.Lys409Gln
NM_006364.3:c.1225A>C	NP_006355.2:p.Lys409Gln
XM_005267262.2:c.1225A>C	XP_005267319.1:p.Lys409Gln
XM_011536355.3:c.1225A>C	XP_011534657.1:p.Lys409Gln
XM_017020928.2:c.1225A>C	XP_016876417.1:p.Lys409Gln
NM_006364.4:c.1225A>C MANE Select	NP_006355.2:p.Lys409Gln