Canonical Allele Identifier: CA224024344

Gene: OVOL1

Linked Data

• dbSNP Id: rs142078379
• gnomAD v2: 11-65559255-G-A
• gnomAD v3: 11-65791784-G-A
• gnomAD v4: 11-65791784-G-A
• MyVariant Identifiers: chr11:g.65559255G>A (hg19) ; chr11:g.65791784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791784G>A , CM000673.2:g.65791784G>A	GRCh38
NC_000011.9:g.65559255G>A , CM000673.1:g.65559255G>A	GRCh37
NC_000011.8:g.65315831G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335987.8:c.101-2247G>A MANE Select	ENSP00000337862.3:n.101-2247G>A
ENST00000335987.7:c.101-2247G>A	ENSP00000337862.3:n.101-2247G>A
ENST00000531907.1:n.361-534G>A
NM_004561.3:c.101-2247G>A	NP_004552.2:n.101-2247G>A
XM_005274018.3:c.-87+2091G>A	XP_005274075.1:n.-87+2091G>A
XM_011545067.1:c.-86-2247G>A	XP_011543369.1:n.-86-2247G>A
XM_011545068.1:c.-87+921G>A	XP_011543370.1:n.-87+921G>A
XM_011545067.2:c.-86-2247G>A	XP_011543369.1:n.-86-2247G>A
XM_011545068.3:c.-87+921G>A	XP_011543370.1:n.-87+921G>A
XM_017017837.1:c.-86-2247G>A	XP_016873326.1:n.-86-2247G>A
NM_004561.4:c.101-2247G>A MANE Select	NP_004552.2:n.101-2247G>A