Canonical Allele Identifier: CA2252771

Gene: SEC13

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10312080G>A , CM000665.2:g.10312080G>A	GRCh38
NC_000003.11:g.10353764G>A , CM000665.1:g.10353764G>A	GRCh37
NC_000003.10:g.10328764G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350697.8:c.335C>T MANE Select	ENSP00000312122.4:p.Ala112Val
ENST00000337354.8:c.344C>T	ENSP00000336566.4:p.Ala115Val
ENST00000350697.7:c.335C>T	ENSP00000312122.4:p.Ala112Val
ENST00000383801.6:c.473C>T	ENSP00000373312.2:p.Ala158Val
ENST00000397105.7:n.376C>T
ENST00000397109.7:c.293C>T	ENSP00000380298.3:p.Ala98Val
ENST00000397117.5:c.293C>T	ENSP00000380306.1:p.Ala98Val
ENST00000477547.6:n.318C>T
ENST00000479868.6:n.1412C>T
ENST00000482647.5:n.275C>T
NM_001136026.2:c.473C>T	NP_001129498.1:p.Ala158Val
NM_001136232.2:c.293C>T	NP_001129704.1:p.Ala98Val
NM_001278946.1:c.335C>T	NP_001265875.1:p.Ala112Val
NM_030673.3:c.344C>T	NP_109598.2:p.Ala115Val
NM_183352.2:c.335C>T	NP_899195.1:p.Ala112Val
XM_005265378.2:c.389C>T	XP_005265435.1:p.Ala130Val
XM_005265379.1:c.344C>T	XP_005265436.1:p.Ala115Val
XM_006713288.1:c.293C>T	XP_006713351.1:p.Ala98Val
XM_011533996.1:c.389C>T	XP_011532298.1:p.Ala130Val
XM_011533997.1:c.275C>T	XP_011532299.1:p.Ala92Val
XM_005265379.3:c.344C>T	XP_005265436.1:p.Ala115Val
XM_017007019.1:c.473C>T	XP_016862508.1:p.Ala158Val
XM_017007020.2:c.389C>T	XP_016862509.2:p.Ala130Val
XM_017007021.2:c.335C>T	XP_016862510.1:p.Ala112Val
XM_024453701.1:c.389C>T	XP_024309469.1:p.Ala130Val
XM_024453702.1:c.389C>T	XP_024309470.1:p.Ala130Val
XM_024453703.1:c.473C>T	XP_024309471.1:p.Ala158Val
XM_024453704.1:c.293C>T	XP_024309472.1:p.Ala98Val
XM_024453705.1:c.293C>T	XP_024309473.1:p.Ala98Val
NM_183352.3:c.335C>T MANE Select	NP_899195.1:p.Ala112Val
NM_001136026.3:c.473C>T	NP_001129498.1:p.Ala158Val
NM_030673.4:c.344C>T	NP_109598.2:p.Ala115Val
NM_001136232.3:c.293C>T	NP_001129704.1:p.Ala98Val
NM_001278946.2:c.335C>T	NP_001265875.1:p.Ala112Val