Canonical Allele Identifier: CA351781980

Gene: SEC13

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10304158G>C , CM000665.2:g.10304158G>C	GRCh38
NC_000003.11:g.10345842G>C , CM000665.1:g.10345842G>C	GRCh37
NC_000003.10:g.10320842G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_183352.3:c.723C>G MANE Select	NP_899195.1:p.Phe241Leu
ENST00000350697.8:c.723C>G MANE Select	ENSP00000312122.4:p.Phe241Leu
NM_001136026.2:c.861C>G	NP_001129498.1:p.Phe287Leu
NM_001136026.3:c.861C>G	NP_001129498.1:p.Phe287Leu
NM_001136232.2:c.681C>G	NP_001129704.1:p.Phe227Leu
NM_001136232.3:c.681C>G	NP_001129704.1:p.Phe227Leu
NM_030673.3:c.732C>G	NP_109598.2:p.Phe244Leu
NM_030673.4:c.732C>G	NP_109598.2:p.Phe244Leu
NM_183352.2:c.723C>G	NP_899195.1:p.Phe241Leu
ENST00000337354.8:c.732C>G	ENSP00000336566.4:p.Phe244Leu
ENST00000350697.7:c.723C>G	ENSP00000312122.4:p.Phe241Leu
ENST00000383801.6:c.861C>G	ENSP00000373312.2:p.Phe287Leu
ENST00000397109.7:c.681C>G	ENSP00000380298.3:p.Phe227Leu
ENST00000397117.5:c.681C>G	ENSP00000380306.1:p.Phe227Leu
ENST00000476597.1:n.491C>G
ENST00000477547.6:n.706C>G
ENST00000479868.6:n.1800C>G
ENST00000490283.1:n.693C>G
ENST00000492602.5:n.55C>G
XM_005265378.2:c.777C>G	XP_005265435.1:p.Phe259Leu
XM_005265379.1:c.732C>G	XP_005265436.1:p.Phe244Leu
XM_005265379.3:c.732C>G	XP_005265436.1:p.Phe244Leu
XM_006713288.1:c.681C>G	XP_006713351.1:p.Phe227Leu
XM_011533996.1:c.777C>G	XP_011532298.1:p.Phe259Leu
XM_011533997.1:c.663C>G	XP_011532299.1:p.Phe221Leu
XM_017007019.1:c.861C>G	XP_016862508.1:p.Phe287Leu
XM_017007020.2:c.777C>G	XP_016862509.2:p.Phe259Leu
XM_017007021.2:c.723C>G	XP_016862510.1:p.Phe241Leu
XM_024453701.1:c.777C>G	XP_024309469.1:p.Phe259Leu
XM_024453702.1:c.777C>G	XP_024309470.1:p.Phe259Leu
XM_024453703.1:c.861C>G	XP_024309471.1:p.Phe287Leu
XM_024453704.1:c.681C>G	XP_024309472.1:p.Phe227Leu
XM_024453705.1:c.681C>G	XP_024309473.1:p.Phe227Leu