Canonical Allele Identifier: CA454700917

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.38260168T>C , CM000669.2:g.38260168T>C GRCh38
NC_000007.13:g.38299769T>C , CM000669.1:g.38299769T>C GRCh37
NC_000007.12:g.38266294T>C NCBI36
NG_029035.1:g.18480A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698248.1:c.*252A>G ENSP00000513628.1:n.*252A>G
ENST00000443402.6:c.441A>G (TRGC1)
ENST00000610547.1:c.381-10579A>G (TRGC2) ENSP00000480566.1:n.381-10579A>G
NM_001003799.1:c.*252A>G NP_001003799.1:n.*252A>G
NM_001003806.1:c.256A>G NP_001003806.1:p.Lys86Glu
XM_011515406.1:c.844A>G XP_011513708.1:p.Lys282Glu
XM_011515407.1:c.256A>G XP_011513709.1:p.Lys86Glu
XM_011515407.2:c.256A>G XP_011513709.1:p.Lys86Glu
XM_017012226.1:c.193+2003A>G XP_016867715.1:n.193+2003A>G
XM_017012227.1:c.256A>G XP_016867716.1:p.Lys86Glu
XM_017012228.1:c.-758+2003A>G XP_016867717.1:n.-758+2003A>G
XM_017012229.1:c.*252A>G XP_016867718.1:n.*252A>G
XM_017012230.1:c.*252A>G XP_016867719.1:n.*252A>G
NM_001003799.2:c.*252A>G NP_001003799.1:n.*252A>G
NM_001003806.2:c.256A>G NP_001003806.1:p.Lys86Glu