Canonical Allele Identifier: CA385888989

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358899-T-C
• MyVariant Identifiers: chr12:g.80752679T>C (hg19) ; chr12:g.80358899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358899T>C , CM000674.2:g.80358899T>C	GRCh38
NC_000012.11:g.80752679T>C , CM000674.1:g.80752679T>C	GRCh37
NC_000012.10:g.79276810T>C	NCBI36
NG_033008.1:g.154447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6266T>C MANE Select	ENSP00000447211.2:p.Val2089Ala
ENST00000642294.1:c.206T>C	ENSP00000493572.1:p.Val69Ala
ENST00000646859.1:c.6131T>C	ENSP00000496036.1:p.Val2044Ala
ENST00000298820.7:c.1527+124T>C
ENST00000458043.6:c.6239T>C	ENSP00000400895.2:p.Val2080Ala
ENST00000546620.5:n.522T>C
ENST00000547103.5:c.6203T>C	ENSP00000447211.1:p.Val2068Ala
ENST00000550182.2:c.290T>C	ENSP00000449641.1:p.Val97Ala
ENST00000551340.5:c.394T>C
NM_173591.3:c.6239T>C	NP_775862.3:p.Val2080Ala
XM_005268802.2:c.6290T>C	XP_005268859.1:p.Val2097Ala
XM_011538191.1:c.6290T>C	XP_011536493.1:p.Val2097Ala
XM_011538192.1:c.6137T>C	XP_011536494.1:p.Val2046Ala
XM_011538193.1:c.5924T>C	XP_011536495.1:p.Val1975Ala
XM_005268802.3:c.6290T>C	XP_005268859.1:p.Val2097Ala
XM_011538192.2:c.6137T>C	XP_011536494.1:p.Val2046Ala
NM_001368062.1:c.6104T>C	NP_001354991.1:p.Val2035Ala
NM_001368062.3:c.6131T>C	NP_001354991.2:p.Val2044Ala
NM_001378609.3:c.6266T>C MANE Select	NP_001365538.2:p.Val2089Ala
NM_001378610.3:c.6266T>C	NP_001365539.2:p.Val2089Ala
NM_173591.7:c.6266T>C	NP_775862.4:p.Val2089Ala