Canonical Allele Identifier: CA2724515979
Gene: OVOL1 HGNC NCBI

Linked Data

dbSNP Id: rs2135701917

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65791779T>C , CM000673.2:g.65791779T>C GRCh38
NC_000011.9:g.65559250T>C , CM000673.1:g.65559250T>C GRCh37
NC_000011.8:g.65315826T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335987.8:c.101-2252T>C MANE Select ENSP00000337862.3:n.101-2252T>C
ENST00000335987.7:c.101-2252T>C ENSP00000337862.3:n.101-2252T>C
ENST00000531907.1:n.361-539T>C
NM_004561.3:c.101-2252T>C NP_004552.2:n.101-2252T>C
XM_005274018.3:c.-87+2086T>C XP_005274075.1:n.-87+2086T>C
XM_011545067.1:c.-86-2252T>C XP_011543369.1:n.-86-2252T>C
XM_011545068.1:c.-87+916T>C XP_011543370.1:n.-87+916T>C
XM_011545067.2:c.-86-2252T>C XP_011543369.1:n.-86-2252T>C
XM_011545068.3:c.-87+916T>C XP_011543370.1:n.-87+916T>C
XM_017017837.1:c.-86-2252T>C XP_016873326.1:n.-86-2252T>C
NM_004561.4:c.101-2252T>C MANE Select NP_004552.2:n.101-2252T>C