Canonical Allele Identifier: CA385888911

Gene: OTOGL

Linked Data

• dbSNP Id: rs1890073196
• MyVariant Identifiers: chr12:g.80752645A>C (hg19) ; chr12:g.80358865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358865A>C , CM000674.2:g.80358865A>C	GRCh38
NC_000012.11:g.80752645A>C , CM000674.1:g.80752645A>C	GRCh37
NC_000012.10:g.79276776A>C	NCBI36
NG_033008.1:g.154413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6232A>C MANE Select	ENSP00000447211.2:p.Asn2078His
ENST00000642294.1:c.172A>C	ENSP00000493572.1:p.Asn58His
ENST00000646859.1:c.6097A>C	ENSP00000496036.1:p.Asn2033His
ENST00000298820.7:c.1527+90A>C
ENST00000458043.6:c.6205A>C	ENSP00000400895.2:p.Asn2069His
ENST00000546620.5:n.488A>C
ENST00000547103.5:c.6169A>C	ENSP00000447211.1:p.Asn2057His
ENST00000550182.2:c.256A>C	ENSP00000449641.1:p.Asn86His
ENST00000551340.5:c.360A>C
NM_173591.3:c.6205A>C	NP_775862.3:p.Asn2069His
XM_005268802.2:c.6256A>C	XP_005268859.1:p.Asn2086His
XM_011538191.1:c.6256A>C	XP_011536493.1:p.Asn2086His
XM_011538192.1:c.6103A>C	XP_011536494.1:p.Asn2035His
XM_011538193.1:c.5890A>C	XP_011536495.1:p.Asn1964His
XM_005268802.3:c.6256A>C	XP_005268859.1:p.Asn2086His
XM_011538192.2:c.6103A>C	XP_011536494.1:p.Asn2035His
NM_001368062.1:c.6070A>C	NP_001354991.1:p.Asn2024His
NM_001368062.3:c.6097A>C	NP_001354991.2:p.Asn2033His
NM_001378609.3:c.6232A>C MANE Select	NP_001365538.2:p.Asn2078His
NM_001378610.3:c.6232A>C	NP_001365539.2:p.Asn2078His
NM_173591.7:c.6232A>C	NP_775862.4:p.Asn2078His