Canonical Allele Identifier: CA351782063
Gene: SEC13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10305052G>C , CM000665.2:g.10305052G>C GRCh38
NC_000003.11:g.10346736G>C , CM000665.1:g.10346736G>C GRCh37
NC_000003.10:g.10321736G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_183352.3:c.689C>G MANE Select NP_899195.1:p.Thr230Ser
ENST00000350697.8:c.689C>G MANE Select ENSP00000312122.4:p.Thr230Ser
NM_001136026.2:c.827C>G NP_001129498.1:p.Thr276Ser
NM_001136026.3:c.827C>G NP_001129498.1:p.Thr276Ser
NM_001136232.2:c.647C>G NP_001129704.1:p.Thr216Ser
NM_001136232.3:c.647C>G NP_001129704.1:p.Thr216Ser
NM_030673.3:c.698C>G NP_109598.2:p.Thr233Ser
NM_030673.4:c.698C>G NP_109598.2:p.Thr233Ser
NM_183352.2:c.689C>G NP_899195.1:p.Thr230Ser
ENST00000337354.8:c.698C>G ENSP00000336566.4:p.Thr233Ser
ENST00000350697.7:c.689C>G ENSP00000312122.4:p.Thr230Ser
ENST00000383801.6:c.827C>G ENSP00000373312.2:p.Thr276Ser
ENST00000397109.7:c.647C>G ENSP00000380298.3:p.Thr216Ser
ENST00000397117.5:c.647C>G ENSP00000380306.1:p.Thr216Ser
ENST00000476597.1:n.457C>G
ENST00000477547.6:n.672C>G
ENST00000479868.6:n.1766C>G
ENST00000490283.1:n.659C>G
ENST00000492602.5:n.21C>G
XM_005265378.2:c.743C>G XP_005265435.1:p.Thr248Ser
XM_005265379.1:c.698C>G XP_005265436.1:p.Thr233Ser
XM_005265379.3:c.698C>G XP_005265436.1:p.Thr233Ser
XM_006713288.1:c.647C>G XP_006713351.1:p.Thr216Ser
XM_011533996.1:c.743C>G XP_011532298.1:p.Thr248Ser
XM_011533997.1:c.629C>G XP_011532299.1:p.Thr210Ser
XM_017007019.1:c.827C>G XP_016862508.1:p.Thr276Ser
XM_017007020.2:c.743C>G XP_016862509.2:p.Thr248Ser
XM_017007021.2:c.689C>G XP_016862510.1:p.Thr230Ser
XM_024453701.1:c.743C>G XP_024309469.1:p.Thr248Ser
XM_024453702.1:c.743C>G XP_024309470.1:p.Thr248Ser
XM_024453703.1:c.827C>G XP_024309471.1:p.Thr276Ser
XM_024453704.1:c.647C>G XP_024309472.1:p.Thr216Ser
XM_024453705.1:c.647C>G XP_024309473.1:p.Thr216Ser