Canonical Allele Identifier: CA2252632

Gene: SEC13

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10305047C>T , CM000665.2:g.10305047C>T	GRCh38
NC_000003.11:g.10346731C>T , CM000665.1:g.10346731C>T	GRCh37
NC_000003.10:g.10321731C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350697.8:c.694G>A MANE Select	ENSP00000312122.4:p.Ala232Thr
ENST00000337354.8:c.703G>A	ENSP00000336566.4:p.Ala235Thr
ENST00000350697.7:c.694G>A	ENSP00000312122.4:p.Ala232Thr
ENST00000383801.6:c.832G>A	ENSP00000373312.2:p.Ala278Thr
ENST00000397109.7:c.652G>A	ENSP00000380298.3:p.Ala218Thr
ENST00000397117.5:c.652G>A	ENSP00000380306.1:p.Ala218Thr
ENST00000476597.1:n.462G>A
ENST00000477547.6:n.677G>A
ENST00000479868.6:n.1771G>A
ENST00000490283.1:n.664G>A
ENST00000492602.5:n.26G>A
NM_001136026.2:c.832G>A	NP_001129498.1:p.Ala278Thr
NM_001136232.2:c.652G>A	NP_001129704.1:p.Ala218Thr
NM_030673.3:c.703G>A	NP_109598.2:p.Ala235Thr
NM_183352.2:c.694G>A	NP_899195.1:p.Ala232Thr
XM_005265378.2:c.748G>A	XP_005265435.1:p.Ala250Thr
XM_005265379.1:c.703G>A	XP_005265436.1:p.Ala235Thr
XM_006713288.1:c.652G>A	XP_006713351.1:p.Ala218Thr
XM_011533996.1:c.748G>A	XP_011532298.1:p.Ala250Thr
XM_011533997.1:c.634G>A	XP_011532299.1:p.Ala212Thr
XM_005265379.3:c.703G>A	XP_005265436.1:p.Ala235Thr
XM_017007019.1:c.832G>A	XP_016862508.1:p.Ala278Thr
XM_017007020.2:c.748G>A	XP_016862509.2:p.Ala250Thr
XM_017007021.2:c.694G>A	XP_016862510.1:p.Ala232Thr
XM_024453701.1:c.748G>A	XP_024309469.1:p.Ala250Thr
XM_024453702.1:c.748G>A	XP_024309470.1:p.Ala250Thr
XM_024453703.1:c.832G>A	XP_024309471.1:p.Ala278Thr
XM_024453704.1:c.652G>A	XP_024309472.1:p.Ala218Thr
XM_024453705.1:c.652G>A	XP_024309473.1:p.Ala218Thr
NM_183352.3:c.694G>A MANE Select	NP_899195.1:p.Ala232Thr
NM_001136026.3:c.832G>A	NP_001129498.1:p.Ala278Thr
NM_030673.4:c.703G>A	NP_109598.2:p.Ala235Thr
NM_001136232.3:c.652G>A	NP_001129704.1:p.Ala218Thr