Canonical Allele Identifier: CA157151908
Gene: EPDR1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs16879765

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37949493C>T , CM000669.2:g.37949493C>T GRCh38
NC_000007.13:g.37989095C>T , CM000669.1:g.37989095C>T GRCh37
NC_000007.12:g.37955620C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001242946.1:c.270-707C>T VV NP_001229875.2:p.=
NM_001242948.1:c.295+445C>T VV NP_001229877.1:p.=
NM_017549.4:c.478+445C>T VV NP_060019.2:p.=
NM_017549.5:c.478+445C>T VV MANE Preferred NP_060019.2:p.=
ENST00000199448.8:c.478+445C>T ENSP00000199448.4:p.=
ENST00000423717.1:c.270-707C>T ENSP00000409211.1:p.=
ENST00000425345.1:c.295+445C>T ENSP00000413359.1:p.=
ENST00000447200.2:c.-52-22719G>A ENSP00000402262.2:p.=
ENST00000476620.1:c.172+445C>T ENSP00000425858.1:p.=