Canonical Allele Identifier: CA938947942

Gene: OVOL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791748G>A , CM000673.2:g.65791748G>A	GRCh38
NC_000011.9:g.65559219G>A , CM000673.1:g.65559219G>A	GRCh37
NC_000011.8:g.65315795G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335987.8:c.101-2283G>A MANE Select	ENSP00000337862.3:n.101-2283G>A
ENST00000335987.7:c.101-2283G>A	ENSP00000337862.3:n.101-2283G>A
ENST00000531907.1:n.361-570G>A
NM_004561.3:c.101-2283G>A	NP_004552.2:n.101-2283G>A
XM_005274018.3:c.-87+2055G>A	XP_005274075.1:n.-87+2055G>A
XM_011545067.1:c.-86-2283G>A	XP_011543369.1:n.-86-2283G>A
XM_011545068.1:c.-87+885G>A	XP_011543370.1:n.-87+885G>A
XM_011545067.2:c.-86-2283G>A	XP_011543369.1:n.-86-2283G>A
XM_011545068.3:c.-87+885G>A	XP_011543370.1:n.-87+885G>A
XM_017017837.1:c.-86-2283G>A	XP_016873326.1:n.-86-2283G>A
NM_004561.4:c.101-2283G>A MANE Select	NP_004552.2:n.101-2283G>A