Canonical Allele Identifier: CA7161737
Community Standard Title: NM_006364.4(SEC23A):c.1875G>A (p.Ala625=)
Gene: SEC23A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39045187C>T , CM000676.2:g.39045187C>T GRCh38
NC_000014.8:g.39514391C>T , CM000676.1:g.39514391C>T GRCh37
NC_000014.7:g.38584142C>T NCBI36
NG_012157.1:g.63047G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006364.4:c.1875G>A MANE Select NP_006355.2:p.Ala625=
ENST00000307712.11:c.1875G>A MANE Select ENSP00000306881.6:p.Ala625=
NM_006364.2:c.1875G>A NP_006355.2:p.Ala625=
NM_006364.3:c.1875G>A NP_006355.2:p.Ala625=
ENST00000307712.10:c.1875G>A ENSP00000306881.6:p.Ala625=
ENST00000537403.5:c.1269G>A ENSP00000444193.1:p.Ala423=
ENST00000545328.6:c.1788G>A ENSP00000445393.2:p.Ala596=
XM_005267262.1:c.1947G>A XP_005267319.1:p.Ala649=
XM_005267262.2:c.1947G>A XP_005267319.1:p.Ala649=
XM_011536355.1:c.1947G>A XP_011534657.1:p.Ala649=
XM_011536355.3:c.1947G>A XP_011534657.1:p.Ala649=
XM_017020928.2:c.1875G>A XP_016876417.1:p.Ala625=