Canonical Allele Identifier: CA938947956

Gene: OVOL1

Linked Data

• dbSNP Id: rs1590999602
• gnomAD v3: 11-65791783-C-T
• gnomAD v4: 11-65791783-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791783C>T , CM000673.2:g.65791783C>T	GRCh38
NC_000011.9:g.65559254C>T , CM000673.1:g.65559254C>T	GRCh37
NC_000011.8:g.65315830C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335987.8:c.101-2248C>T MANE Select	ENSP00000337862.3:n.101-2248C>T
ENST00000335987.7:c.101-2248C>T	ENSP00000337862.3:n.101-2248C>T
ENST00000531907.1:n.361-535C>T
NM_004561.3:c.101-2248C>T	NP_004552.2:n.101-2248C>T
XM_005274018.3:c.-87+2090C>T	XP_005274075.1:n.-87+2090C>T
XM_011545067.1:c.-86-2248C>T	XP_011543369.1:n.-86-2248C>T
XM_011545068.1:c.-87+920C>T	XP_011543370.1:n.-87+920C>T
XM_011545067.2:c.-86-2248C>T	XP_011543369.1:n.-86-2248C>T
XM_011545068.3:c.-87+920C>T	XP_011543370.1:n.-87+920C>T
XM_017017837.1:c.-86-2248C>T	XP_016873326.1:n.-86-2248C>T
NM_004561.4:c.101-2248C>T MANE Select	NP_004552.2:n.101-2248C>T