Canonical Allele Identifier: CA5579410
Community Standard Title: NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr)
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84195556G>A , CM000672.2:g.84195556G>A GRCh38
NC_000010.10:g.85955312G>A , CM000672.1:g.85955312G>A GRCh37
NC_000010.9:g.85945292G>A NCBI36
NG_028034.1:g.5901G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.118G>A MANE Select NP_149091.1:p.Ala40Thr
ENST00000623527.4:c.118G>A MANE Select ENSP00000485478.1:p.Ala40Thr
NM_001171971.2:c.118G>A NP_001165442.1:p.Ala40Thr
NM_001171971.3:c.118G>A NP_001165442.1:p.Ala40Thr
NM_033100.3:c.118G>A NP_149091.1:p.Ala40Thr
ENST00000332904.7:c.118G>A ENSP00000331063.3:p.Ala40Thr
ENST00000623527.3:c.118G>A ENSP00000485478.1:p.Ala40Thr
XM_011540337.1:c.292G>A XP_011538639.1:p.Ala98Thr
XM_011540338.1:c.292G>A XP_011538640.1:p.Ala98Thr
XM_011540339.1:c.-262G>A XP_011538641.1:n.-262G>A
XM_011540340.1:c.292G>A XP_011538642.1:p.Ala98Thr
XM_011540340.3:c.292G>A XP_011538642.1:p.Ala98Thr