Canonical Allele Identifier: CA383221399

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345594A>T , CM000673.2:g.126345594A>T GRCh38
NC_000011.9:g.126215489A>T , CM000673.1:g.126215489A>T GRCh37
NC_000011.8:g.125720699A>T NCBI36
NG_053153.1:g.47294A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.995A>T (DCPS) MANE Select ENSP00000263579.4:p.Gln332Leu
ENST00000648516.1:c.716A>T (DCPS) ENSP00000497684.1:p.Gln239Leu
ENST00000263579.4:c.995A>T (DCPS) ENSP00000263579.4:p.Gln332Leu
ENST00000529149.1:n.2345A>T (DCPS)
ENST00000530860.5:n.506A>T (DCPS)
NM_014026.4:c.995A>T (DCPS) NP_054745.1:p.Gln332Leu
NR_033839.1:n.147-3272T>A (GSEC)
XM_011542778.1:c.1016A>T (DCPS) XP_011541080.1:p.Gln339Leu
XM_011542779.1:c.716A>T (DCPS) XP_011541081.1:p.Gln239Leu
XM_011542780.1:c.716A>T (DCPS) XP_011541082.1:p.Gln239Leu
NM_001350236.1:c.1016A>T (DCPS) NP_001337165.1:p.Gln339Leu
NM_014026.5:c.995A>T (DCPS) NP_054745.1:p.Gln332Leu
NM_014026.6:c.995A>T (DCPS) MANE Select NP_054745.1:p.Gln332Leu
NM_001350236.2:c.1016A>T (DCPS) NP_001337165.1:p.Gln339Leu