Canonical Allele Identifier: CA385888914

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752646A>C (hg19) ; chr12:g.80358866A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358866A>C , CM000674.2:g.80358866A>C	GRCh38
NC_000012.11:g.80752646A>C , CM000674.1:g.80752646A>C	GRCh37
NC_000012.10:g.79276777A>C	NCBI36
NG_033008.1:g.154414A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6233A>C MANE Select	ENSP00000447211.2:p.Asn2078Thr
ENST00000642294.1:c.173A>C	ENSP00000493572.1:p.Asn58Thr
ENST00000646859.1:c.6098A>C	ENSP00000496036.1:p.Asn2033Thr
ENST00000298820.7:c.1527+91A>C
ENST00000458043.6:c.6206A>C	ENSP00000400895.2:p.Asn2069Thr
ENST00000546620.5:n.489A>C
ENST00000547103.5:c.6170A>C	ENSP00000447211.1:p.Asn2057Thr
ENST00000550182.2:c.257A>C	ENSP00000449641.1:p.Asn86Thr
ENST00000551340.5:c.361A>C
NM_173591.3:c.6206A>C	NP_775862.3:p.Asn2069Thr
XM_005268802.2:c.6257A>C	XP_005268859.1:p.Asn2086Thr
XM_011538191.1:c.6257A>C	XP_011536493.1:p.Asn2086Thr
XM_011538192.1:c.6104A>C	XP_011536494.1:p.Asn2035Thr
XM_011538193.1:c.5891A>C	XP_011536495.1:p.Asn1964Thr
XM_005268802.3:c.6257A>C	XP_005268859.1:p.Asn2086Thr
XM_011538192.2:c.6104A>C	XP_011536494.1:p.Asn2035Thr
NM_001368062.1:c.6071A>C	NP_001354991.1:p.Asn2024Thr
NM_001368062.3:c.6098A>C	NP_001354991.2:p.Asn2033Thr
NM_001378609.3:c.6233A>C MANE Select	NP_001365538.2:p.Asn2078Thr
NM_001378610.3:c.6233A>C	NP_001365539.2:p.Asn2078Thr
NM_173591.7:c.6233A>C	NP_775862.4:p.Asn2078Thr