Canonical Allele Identifier: CA383221193

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345498A>C , CM000673.2:g.126345498A>C GRCh38
NC_000011.9:g.126215393A>C , CM000673.1:g.126215393A>C GRCh37
NC_000011.8:g.125720603A>C NCBI36
NG_053153.1:g.47198A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.899A>C (DCPS) MANE Select ENSP00000263579.4:p.Glu300Ala
ENST00000648516.1:c.620A>C (DCPS) ENSP00000497684.1:p.Glu207Ala
ENST00000263579.4:c.899A>C (DCPS) ENSP00000263579.4:p.Glu300Ala
ENST00000529149.1:n.2249A>C (DCPS)
ENST00000530860.5:n.410A>C (DCPS)
NM_014026.4:c.899A>C (DCPS) NP_054745.1:p.Glu300Ala
NR_033839.1:n.147-3176T>G (GSEC)
XM_011542778.1:c.920A>C (DCPS) XP_011541080.1:p.Glu307Ala
XM_011542779.1:c.620A>C (DCPS) XP_011541081.1:p.Glu207Ala
XM_011542780.1:c.620A>C (DCPS) XP_011541082.1:p.Glu207Ala
NM_001350236.1:c.920A>C (DCPS) NP_001337165.1:p.Glu307Ala
NM_014026.5:c.899A>C (DCPS) NP_054745.1:p.Glu300Ala
NM_014026.6:c.899A>C (DCPS) MANE Select NP_054745.1:p.Glu300Ala
NM_001350236.2:c.920A>C (DCPS) NP_001337165.1:p.Glu307Ala