Canonical Allele Identifier: CA377371575
Gene: CDHR1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000623527.4:c.486G>T MANE Select ENSP00000485478.1:p.Arg162Ser
ENST00000332904.7:c.486G>T ENSP00000331063.3:p.Arg162Ser
ENST00000623527.3:c.486G>T ENSP00000485478.1:p.Arg162Ser
NM_001171971.2:c.486G>T NP_001165442.1:p.Arg162Ser
NM_033100.3:c.486G>T NP_149091.1:p.Arg162Ser
XM_011540337.1:c.660G>T XP_011538639.1:p.Arg220Ser
XM_011540338.1:c.660G>T XP_011538640.1:p.Arg220Ser
XM_011540339.1:c.107G>T XP_011538641.1:p.Gly36Val
XM_011540340.1:c.660G>T XP_011538642.1:p.Arg220Ser
XM_011540340.3:c.660G>T XP_011538642.1:p.Arg220Ser
NM_033100.4:c.486G>T MANE Select NP_149091.1:p.Arg162Ser
NM_001171971.3:c.486G>T NP_001165442.1:p.Arg162Ser