Canonical Allele Identifier: CA5579550
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84200648G>C , CM000672.2:g.84200648G>C GRCh38
NC_000010.10:g.85960404G>C , CM000672.1:g.85960404G>C GRCh37
NC_000010.9:g.85950384G>C NCBI36
NG_028034.1:g.10993G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000623527.4:c.486G>C MANE Select ENSP00000485478.1:p.Arg162Ser
ENST00000332904.7:c.486G>C ENSP00000331063.3:p.Arg162Ser
ENST00000623527.3:c.486G>C ENSP00000485478.1:p.Arg162Ser
NM_001171971.2:c.486G>C NP_001165442.1:p.Arg162Ser
NM_033100.3:c.486G>C NP_149091.1:p.Arg162Ser
XM_011540337.1:c.660G>C XP_011538639.1:p.Arg220Ser
XM_011540338.1:c.660G>C XP_011538640.1:p.Arg220Ser
XM_011540339.1:c.107G>C XP_011538641.1:p.Gly36Ala
XM_011540340.1:c.660G>C XP_011538642.1:p.Arg220Ser
XM_011540340.3:c.660G>C XP_011538642.1:p.Arg220Ser
NM_033100.4:c.486G>C MANE Select NP_149091.1:p.Arg162Ser
NM_001171971.3:c.486G>C NP_001165442.1:p.Arg162Ser