Canonical Allele Identifier: CA393339787

Gene: SEC11A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84680735C>G , CM000677.2:g.84680735C>G	GRCh38
NC_000015.9:g.85223966C>G , CM000677.1:g.85223966C>G	GRCh37
NC_000015.8:g.83024970C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014300.4:c.409G>C MANE Select	NP_055115.1:p.Asp137His
ENST00000268220.12:c.409G>C MANE Select	ENSP00000268220.7:p.Asp137His
NM_001271918.1:c.331G>C	NP_001258847.1:p.Asp111His
NM_001271918.2:c.331G>C	NP_001258847.1:p.Asp111His
NM_001271919.1:c.311+6890G>C	NP_001258848.1:n.311+6890G>C
NM_001271919.2:c.311+6890G>C	NP_001258848.1:n.311+6890G>C
NM_001271920.1:c.409G>C	NP_001258849.1:p.Asp137His
NM_001271920.2:c.409G>C	NP_001258849.1:p.Asp137His
NM_001271921.1:c.259G>C	NP_001258850.1:p.Asp87His
NM_001271921.2:c.259G>C	NP_001258850.1:p.Asp87His
NM_001271922.1:c.409G>C	NP_001258851.1:p.Asp137His
NM_001271922.2:c.409G>C	NP_001258851.1:p.Asp137His
NM_014300.3:c.409G>C	NP_055115.1:p.Asp137His
NR_073518.1:n.794G>C
NR_073518.2:n.473G>C
ENST00000268220.11:c.409G>C	ENSP00000268220.7:p.Asp137His
ENST00000455959.7:c.331G>C	ENSP00000413121.3:p.Asp111His
ENST00000558134.5:c.409G>C	ENSP00000452697.1:p.Asp137His
ENST00000558217.5:c.299+6890G>C	ENSP00000453930.1:n.299+6890G>C
ENST00000559729.5:c.259G>C	ENSP00000452932.1:p.Asp87His
ENST00000560266.5:c.409G>C	ENSP00000452684.1:p.Asp137His
ENST00000560409.5:c.409G>C	ENSP00000453997.1:p.Asp137His