Canonical Allele Identifier: CA2252698

Gene: SEC13

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10305682T>C , CM000665.2:g.10305682T>C	GRCh38
NC_000003.11:g.10347366T>C , CM000665.1:g.10347366T>C	GRCh37
NC_000003.10:g.10322366T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350697.8:c.461A>G MANE Select	ENSP00000312122.4:p.Asn154Ser
ENST00000337354.8:c.470A>G	ENSP00000336566.4:p.Asn157Ser
ENST00000350697.7:c.461A>G	ENSP00000312122.4:p.Asn154Ser
ENST00000383801.6:c.599A>G	ENSP00000373312.2:p.Asn200Ser
ENST00000397109.7:c.419A>G	ENSP00000380298.3:p.Asn140Ser
ENST00000397117.5:c.419A>G	ENSP00000380306.1:p.Asn140Ser
ENST00000476597.1:n.229A>G
ENST00000477547.6:n.444A>G
ENST00000479868.6:n.1538A>G
ENST00000490283.1:n.29A>G
NM_001136026.2:c.599A>G	NP_001129498.1:p.Asn200Ser
NM_001136232.2:c.419A>G	NP_001129704.1:p.Asn140Ser
NM_030673.3:c.470A>G	NP_109598.2:p.Asn157Ser
NM_183352.2:c.461A>G	NP_899195.1:p.Asn154Ser
XM_005265378.2:c.515A>G	XP_005265435.1:p.Asn172Ser
XM_005265379.1:c.470A>G	XP_005265436.1:p.Asn157Ser
XM_006713288.1:c.419A>G	XP_006713351.1:p.Asn140Ser
XM_011533996.1:c.515A>G	XP_011532298.1:p.Asn172Ser
XM_011533997.1:c.401A>G	XP_011532299.1:p.Asn134Ser
XM_005265379.3:c.470A>G	XP_005265436.1:p.Asn157Ser
XM_017007019.1:c.599A>G	XP_016862508.1:p.Asn200Ser
XM_017007020.2:c.515A>G	XP_016862509.2:p.Asn172Ser
XM_017007021.2:c.461A>G	XP_016862510.1:p.Asn154Ser
XM_024453701.1:c.515A>G	XP_024309469.1:p.Asn172Ser
XM_024453702.1:c.515A>G	XP_024309470.1:p.Asn172Ser
XM_024453703.1:c.599A>G	XP_024309471.1:p.Asn200Ser
XM_024453704.1:c.419A>G	XP_024309472.1:p.Asn140Ser
XM_024453705.1:c.419A>G	XP_024309473.1:p.Asn140Ser
NM_183352.3:c.461A>G MANE Select	NP_899195.1:p.Asn154Ser
NM_001136026.3:c.599A>G	NP_001129498.1:p.Asn200Ser
NM_030673.4:c.470A>G	NP_109598.2:p.Asn157Ser
NM_001136232.3:c.419A>G	NP_001129704.1:p.Asn140Ser