Canonical Allele Identifier: CA5580080
Community Standard Title: NM_033100.4(CDHR1):c.1873C>G (p.His625Asp)
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84213181C>G , CM000672.2:g.84213181C>G GRCh38
NC_000010.10:g.85972937C>G , CM000672.1:g.85972937C>G GRCh37
NC_000010.9:g.85962917C>G NCBI36
NG_028034.1:g.23526C>G

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.1873C>G MANE Select NP_149091.1:p.His625Asp
ENST00000623527.4:c.1873C>G MANE Select ENSP00000485478.1:p.His625Asp
NM_001171971.2:c.1873C>G NP_001165442.1:p.His625Asp
NM_001171971.3:c.1873C>G NP_001165442.1:p.His625Asp
NM_033100.3:c.1873C>G NP_149091.1:p.His625Asp
ENST00000332904.7:c.1873C>G ENSP00000331063.3:p.His625Asp
ENST00000372117.6:c.1088C>G
ENST00000459673.1:n.305C>G
ENST00000622973.1:c.491C>G
ENST00000623399.1:c.44C>G
ENST00000623527.3:c.1873C>G ENSP00000485478.1:p.His625Asp
XM_011540337.1:c.2047C>G XP_011538639.1:p.His683Asp
XM_011540338.1:c.2047C>G XP_011538640.1:p.His683Asp
XM_011540339.1:c.1426C>G XP_011538641.1:p.His476Asp