Canonical Allele Identifier: CA1700817225

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37949571G= , CM000669.2:g.37949571G= GRCh38
NC_000007.13:g.37989173G= , CM000669.1:g.37989173G= GRCh37
NC_000007.12:g.37955698G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000199448.9:c.478+523G= (EPDR1) MANE Select ENSP00000199448.4:n.478+523G=
ENST00000199448.8:c.478+523G= (EPDR1) ENSP00000199448.4:n.478+523G=
ENST00000423717.1:c.270-629G= (EPDR1) ENSP00000409211.1:n.270-629G=
ENST00000425345.1:c.295+523G= (EPDR1) ENSP00000413359.1:n.295+523G=
ENST00000447200.2:c.-52-22797C= (SFRP4) ENSP00000402262.2:n.-52-22797C=
ENST00000476620.1:c.172+523G= (EPDR1) ENSP00000425858.1:n.172+523G=
NM_001242946.1:c.270-629G= (EPDR1) NP_001229875.2:n.270-629G=
NM_001242948.1:c.295+523G= (EPDR1) NP_001229877.1:n.295+523G=
NM_017549.4:c.478+523G= (EPDR1) NP_060019.2:n.478+523G=
NM_017549.5:c.478+523G= (EPDR1) MANE Select NP_060019.2:n.478+523G=
NM_001242946.2:c.270-629G= (EPDR1) NP_001229875.2:n.270-629G=
NM_001242948.2:c.295+523G= (EPDR1) NP_001229877.1:n.295+523G=