Canonical Allele Identifier: CA351781987

Gene: SEC13

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10304160A>G , CM000665.2:g.10304160A>G	GRCh38
NC_000003.11:g.10345844A>G , CM000665.1:g.10345844A>G	GRCh37
NC_000003.10:g.10320844A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_183352.3:c.721T>C MANE Select	NP_899195.1:p.Phe241Leu
ENST00000350697.8:c.721T>C MANE Select	ENSP00000312122.4:p.Phe241Leu
NM_001136026.2:c.859T>C	NP_001129498.1:p.Phe287Leu
NM_001136026.3:c.859T>C	NP_001129498.1:p.Phe287Leu
NM_001136232.2:c.679T>C	NP_001129704.1:p.Phe227Leu
NM_001136232.3:c.679T>C	NP_001129704.1:p.Phe227Leu
NM_030673.3:c.730T>C	NP_109598.2:p.Phe244Leu
NM_030673.4:c.730T>C	NP_109598.2:p.Phe244Leu
NM_183352.2:c.721T>C	NP_899195.1:p.Phe241Leu
ENST00000337354.8:c.730T>C	ENSP00000336566.4:p.Phe244Leu
ENST00000350697.7:c.721T>C	ENSP00000312122.4:p.Phe241Leu
ENST00000383801.6:c.859T>C	ENSP00000373312.2:p.Phe287Leu
ENST00000397109.7:c.679T>C	ENSP00000380298.3:p.Phe227Leu
ENST00000397117.5:c.679T>C	ENSP00000380306.1:p.Phe227Leu
ENST00000476597.1:n.489T>C
ENST00000477547.6:n.704T>C
ENST00000479868.6:n.1798T>C
ENST00000490283.1:n.691T>C
ENST00000492602.5:n.53T>C
XM_005265378.2:c.775T>C	XP_005265435.1:p.Phe259Leu
XM_005265379.1:c.730T>C	XP_005265436.1:p.Phe244Leu
XM_005265379.3:c.730T>C	XP_005265436.1:p.Phe244Leu
XM_006713288.1:c.679T>C	XP_006713351.1:p.Phe227Leu
XM_011533996.1:c.775T>C	XP_011532298.1:p.Phe259Leu
XM_011533997.1:c.661T>C	XP_011532299.1:p.Phe221Leu
XM_017007019.1:c.859T>C	XP_016862508.1:p.Phe287Leu
XM_017007020.2:c.775T>C	XP_016862509.2:p.Phe259Leu
XM_017007021.2:c.721T>C	XP_016862510.1:p.Phe241Leu
XM_024453701.1:c.775T>C	XP_024309469.1:p.Phe259Leu
XM_024453702.1:c.775T>C	XP_024309470.1:p.Phe259Leu
XM_024453703.1:c.859T>C	XP_024309471.1:p.Phe287Leu
XM_024453704.1:c.679T>C	XP_024309472.1:p.Phe227Leu
XM_024453705.1:c.679T>C	XP_024309473.1:p.Phe227Leu