Canonical Allele Identifier: CA6568643

Gene: SMAGP DAZAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51245986C>G , CM000674.2:g.51245986C>G	GRCh38
NC_000012.11:g.51639770C>G , CM000674.1:g.51639770C>G	GRCh37
NC_000012.10:g.49926037C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000603798.6:c.249G>C (SMAGP) MANE Select	ENSP00000475068.1:p.Glu83Asp
ENST00000380103.4:c.*254G>C (SMAGP)	ENSP00000369446.4:n.*254G>C
ENST00000398453.7:c.249G>C (SMAGP)	ENSP00000381471.2:p.Glu83Asp
ENST00000425012.6:c.379-75C>G (DAZAP2)	ENSP00000408251.2:n.379-75C>G
ENST00000603798.5:c.249G>C (SMAGP)	ENSP00000475068.1:p.Glu83Asp
ENST00000603864.5:c.249G>C (SMAGP)	ENSP00000474892.1:p.Glu83Asp
ENST00000604900.5:c.378+4870C>G (DAZAP2)	ENSP00000474597.1:n.378+4870C>G
ENST00000605627.1:c.207G>C (SMAGP)	ENSP00000475135.1:p.Glu69Asp
NM_001031628.1:c.249G>C (SMAGP)	NP_001026798.1:p.Glu83Asp
NM_001033873.1:c.249G>C (SMAGP)	NP_001029045.1:p.Glu83Asp
NM_001136269.1:c.379-75C>G (DAZAP2)	NP_001129741.1:n.379-75C>G
NM_001031628.2:c.249G>C (SMAGP) MANE Select	NP_001026798.1:p.Glu83Asp
NM_001136269.2:c.379-75C>G (DAZAP2)	NP_001129741.1:n.379-75C>G