Canonical Allele Identifier: CA5579943
Community Standard Title: NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84211141G>A , CM000672.2:g.84211141G>A GRCh38
NC_000010.10:g.85970897G>A , CM000672.1:g.85970897G>A GRCh37
NC_000010.9:g.85960877G>A NCBI36
NG_028034.1:g.21486G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.1461G>A MANE Select NP_149091.1:p.Gly487=
ENST00000623527.4:c.1461G>A MANE Select ENSP00000485478.1:p.Gly487=
NM_001171971.2:c.1461G>A NP_001165442.1:p.Gly487=
NM_001171971.3:c.1461G>A NP_001165442.1:p.Gly487=
NM_033100.3:c.1461G>A NP_149091.1:p.Gly487=
ENST00000332904.7:c.1461G>A ENSP00000331063.3:p.Gly487=
ENST00000372117.6:c.701-507G>A
ENST00000622973.1:c.194G>A
ENST00000623527.3:c.1461G>A ENSP00000485478.1:p.Gly487=
XM_011540337.1:c.1635G>A XP_011538639.1:p.Gly545=
XM_011540338.1:c.1635G>A XP_011538640.1:p.Gly545=
XM_011540339.1:c.1014G>A XP_011538641.1:p.Gly338=
XM_011540340.1:c.1635G>A XP_011538642.1:p.Gly545=
XM_011540340.3:c.1635G>A XP_011538642.1:p.Gly545=