Canonical Allele Identifier: CA7161708
Community Standard Title: NM_006364.4(SEC23A):c.1900-10T>C
Gene: SEC23A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39042882A>G , CM000676.2:g.39042882A>G GRCh38
NC_000014.8:g.39512086A>G , CM000676.1:g.39512086A>G GRCh37
NC_000014.7:g.38581837A>G NCBI36
NG_012157.1:g.65352T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006364.4:c.1900-10T>C MANE Select NP_006355.2:n.1900-10T>C
ENST00000307712.11:c.1900-10T>C MANE Select ENSP00000306881.6:n.1900-10T>C
NM_006364.2:c.1900-10T>C NP_006355.2:n.1900-10T>C
NM_006364.3:c.1900-10T>C NP_006355.2:n.1900-10T>C
ENST00000307712.10:c.1900-10T>C ENSP00000306881.6:n.1900-10T>C
ENST00000537403.5:c.1294-10T>C ENSP00000444193.1:n.1294-10T>C
ENST00000545328.6:c.1813-10T>C ENSP00000445393.2:n.1813-10T>C
XM_005267262.1:c.1972-10T>C XP_005267319.1:n.1972-10T>C
XM_005267262.2:c.1972-10T>C XP_005267319.1:n.1972-10T>C
XM_011536355.1:c.1972-10T>C XP_011534657.1:n.1972-10T>C
XM_011536355.3:c.1972-10T>C XP_011534657.1:n.1972-10T>C
XM_017020928.2:c.1900-10T>C XP_016876417.1:n.1900-10T>C