Canonical Allele Identifier: CA210378942
Community Standard Title: NM_033100.4(CDHR1):c.435C>T (p.Pro145=)
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84199118C>T , CM000672.2:g.84199118C>T GRCh38
NC_000010.10:g.85958874C>T , CM000672.1:g.85958874C>T GRCh37
NC_000010.9:g.85948854C>T NCBI36
NG_028034.1:g.9463C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.435C>T MANE Select NP_149091.1:p.Pro145=
ENST00000623527.4:c.435C>T MANE Select ENSP00000485478.1:p.Pro145=
NM_001171971.2:c.435C>T NP_001165442.1:p.Pro145=
NM_001171971.3:c.435C>T NP_001165442.1:p.Pro145=
NM_033100.3:c.435C>T NP_149091.1:p.Pro145=
ENST00000332904.7:c.435C>T ENSP00000331063.3:p.Pro145=
ENST00000623527.3:c.435C>T ENSP00000485478.1:p.Pro145=
XM_011540337.1:c.609C>T XP_011538639.1:p.Pro203=
XM_011540338.1:c.609C>T XP_011538640.1:p.Pro203=
XM_011540339.1:c.56C>T XP_011538641.1:p.Pro19Leu
XM_011540340.1:c.609C>T XP_011538642.1:p.Pro203=
XM_011540340.3:c.609C>T XP_011538642.1:p.Pro203=