Canonical Allele Identifier: CA7162092
Community Standard Title: NM_006364.4(SEC23A):c.604-8C>G
Gene: SEC23A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39087016G>C , CM000676.2:g.39087016G>C GRCh38
NC_000014.8:g.39556220G>C , CM000676.1:g.39556220G>C GRCh37
NC_000014.7:g.38625971G>C NCBI36
NG_012157.1:g.21218C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006364.4:c.604-8C>G MANE Select NP_006355.2:n.604-8C>G
ENST00000307712.11:c.604-8C>G MANE Select ENSP00000306881.6:n.604-8C>G
NM_006364.2:c.604-8C>G NP_006355.2:n.604-8C>G
NM_006364.3:c.604-8C>G NP_006355.2:n.604-8C>G
ENST00000307712.10:c.604-8C>G ENSP00000306881.6:n.604-8C>G
ENST00000537403.5:c.-3-8C>G ENSP00000444193.1:n.-3-8C>G
ENST00000545328.6:c.517-8C>G ENSP00000445393.2:n.517-8C>G
XM_005267262.1:c.604-8C>G XP_005267319.1:n.604-8C>G
XM_005267262.2:c.604-8C>G XP_005267319.1:n.604-8C>G
XM_011536355.1:c.604-8C>G XP_011534657.1:n.604-8C>G
XM_011536355.3:c.604-8C>G XP_011534657.1:n.604-8C>G
XM_017020928.2:c.604-8C>G XP_016876417.1:n.604-8C>G