Canonical Allele Identifier: CA385888672

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752460C>T (hg19) ; chr12:g.80358680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358680C>T , CM000674.2:g.80358680C>T	GRCh38
NC_000012.11:g.80752460C>T , CM000674.1:g.80752460C>T	GRCh37
NC_000012.10:g.79276591C>T	NCBI36
NG_033008.1:g.154228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6131C>T MANE Select	ENSP00000447211.2:p.Pro2044Leu
ENST00000642294.1:c.71C>T	ENSP00000493572.1:p.Pro24Leu
ENST00000646859.1:c.5996C>T	ENSP00000496036.1:p.Pro1999Leu
ENST00000298820.7:c.1432C>T
ENST00000458043.6:c.6104C>T	ENSP00000400895.2:p.Pro2035Leu
ENST00000546620.5:n.387C>T
ENST00000547103.5:c.6068C>T	ENSP00000447211.1:p.Pro2023Leu
ENST00000550182.2:c.155C>T	ENSP00000449641.1:p.Pro52Leu
ENST00000551340.5:c.259C>T
NM_173591.3:c.6104C>T	NP_775862.3:p.Pro2035Leu
XM_005268802.2:c.6155C>T	XP_005268859.1:p.Pro2052Leu
XM_011538191.1:c.6155C>T	XP_011536493.1:p.Pro2052Leu
XM_011538192.1:c.6002C>T	XP_011536494.1:p.Pro2001Leu
XM_011538193.1:c.5789C>T	XP_011536495.1:p.Pro1930Leu
XM_005268802.3:c.6155C>T	XP_005268859.1:p.Pro2052Leu
XM_011538192.2:c.6002C>T	XP_011536494.1:p.Pro2001Leu
NM_001368062.1:c.5969C>T	NP_001354991.1:p.Pro1990Leu
NM_001368062.3:c.5996C>T	NP_001354991.2:p.Pro1999Leu
NM_001378609.3:c.6131C>T MANE Select	NP_001365538.2:p.Pro2044Leu
NM_001378610.3:c.6131C>T	NP_001365539.2:p.Pro2044Leu
NM_173591.7:c.6131C>T	NP_775862.4:p.Pro2044Leu