Canonical Allele Identifier: CA224024336

Gene: OVOL1

Linked Data

• dbSNP Id: rs527424961
• gnomAD v3: 11-65791738-A-G
• gnomAD v4: 11-65791738-A-G
• MyVariant Identifiers: chr11:g.65559209A>G (hg19) ; chr11:g.65791738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791738A>G , CM000673.2:g.65791738A>G	GRCh38
NC_000011.9:g.65559209A>G , CM000673.1:g.65559209A>G	GRCh37
NC_000011.8:g.65315785A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335987.8:c.101-2293A>G MANE Select	ENSP00000337862.3:n.101-2293A>G
ENST00000335987.7:c.101-2293A>G	ENSP00000337862.3:n.101-2293A>G
ENST00000531907.1:n.361-580A>G
NM_004561.3:c.101-2293A>G	NP_004552.2:n.101-2293A>G
XM_005274018.3:c.-87+2045A>G	XP_005274075.1:n.-87+2045A>G
XM_011545067.1:c.-86-2293A>G	XP_011543369.1:n.-86-2293A>G
XM_011545068.1:c.-87+875A>G	XP_011543370.1:n.-87+875A>G
XM_011545067.2:c.-86-2293A>G	XP_011543369.1:n.-86-2293A>G
XM_011545068.3:c.-87+875A>G	XP_011543370.1:n.-87+875A>G
XM_017017837.1:c.-86-2293A>G	XP_016873326.1:n.-86-2293A>G
NM_004561.4:c.101-2293A>G MANE Select	NP_004552.2:n.101-2293A>G