Canonical Allele Identifier: CA385888877

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752550A>C (hg19) ; chr12:g.80358770A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358770A>C , CM000674.2:g.80358770A>C	GRCh38
NC_000012.11:g.80752550A>C , CM000674.1:g.80752550A>C	GRCh37
NC_000012.10:g.79276681A>C	NCBI36
NG_033008.1:g.154318A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6221A>C MANE Select	ENSP00000447211.2:p.His2074Pro
ENST00000642294.1:c.161A>C	ENSP00000493572.1:p.His54Pro
ENST00000646859.1:c.6086A>C	ENSP00000496036.1:p.His2029Pro
ENST00000298820.7:c.1522A>C
ENST00000458043.6:c.6194A>C	ENSP00000400895.2:p.His2065Pro
ENST00000546620.5:n.477A>C
ENST00000547103.5:c.6158A>C	ENSP00000447211.1:p.His2053Pro
ENST00000550182.2:c.245A>C	ENSP00000449641.1:p.His82Pro
ENST00000551340.5:c.349A>C
NM_173591.3:c.6194A>C	NP_775862.3:p.His2065Pro
XM_005268802.2:c.6245A>C	XP_005268859.1:p.His2082Pro
XM_011538191.1:c.6245A>C	XP_011536493.1:p.His2082Pro
XM_011538192.1:c.6092A>C	XP_011536494.1:p.His2031Pro
XM_011538193.1:c.5879A>C	XP_011536495.1:p.His1960Pro
XM_005268802.3:c.6245A>C	XP_005268859.1:p.His2082Pro
XM_011538192.2:c.6092A>C	XP_011536494.1:p.His2031Pro
NM_001368062.1:c.6059A>C	NP_001354991.1:p.His2020Pro
NM_001368062.3:c.6086A>C	NP_001354991.2:p.His2029Pro
NM_001378609.3:c.6221A>C MANE Select	NP_001365538.2:p.His2074Pro
NM_001378610.3:c.6221A>C	NP_001365539.2:p.His2074Pro
NM_173591.7:c.6221A>C	NP_775862.4:p.His2074Pro