Canonical Allele Identifier: CA15770813

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 1240641
• ClinVar RCV Id: RCV001641029
• dbSNP Id: rs79907299
• gnomAD v2: 12-80752859-G-T
• gnomAD v3: 12-80359079-G-T
• gnomAD v4: 12-80359079-G-T
• MyVariant Identifiers: chr12:g.80752859G>T (hg19) ; chr12:g.80359079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80359079G>T , CM000674.2:g.80359079G>T	GRCh38
NC_000012.11:g.80752859G>T , CM000674.1:g.80752859G>T	GRCh37
NC_000012.10:g.79276990G>T	NCBI36
NG_033008.1:g.154627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267+179G>T MANE Select	ENSP00000447211.2:n.6267+179G>T
ENST00000642294.1:c.207+179G>T	ENSP00000493572.1:n.207+179G>T
ENST00000646859.1:c.6132+179G>T	ENSP00000496036.1:n.6132+179G>T
ENST00000298820.7:c.1527+304G>T
ENST00000458043.6:c.6240+179G>T	ENSP00000400895.2:n.6240+179G>T
ENST00000546620.5:n.523+179G>T
ENST00000547103.5:c.6204+179G>T	ENSP00000447211.1:n.6204+179G>T
ENST00000550182.2:c.291+179G>T	ENSP00000449641.1:n.291+179G>T
ENST00000551340.5:c.395+179G>T
NM_173591.3:c.6240+179G>T	NP_775862.3:n.6240+179G>T
XM_005268802.2:c.6291+179G>T	XP_005268859.1:n.6291+179G>T
XM_011538191.1:c.6291+179G>T	XP_011536493.1:n.6291+179G>T
XM_011538192.1:c.6138+179G>T	XP_011536494.1:n.6138+179G>T
XM_011538193.1:c.5925+179G>T	XP_011536495.1:n.5925+179G>T
XM_005268802.3:c.6291+179G>T	XP_005268859.1:n.6291+179G>T
XM_011538192.2:c.6138+179G>T	XP_011536494.1:n.6138+179G>T
NM_001368062.1:c.6105+179G>T	NP_001354991.1:n.6105+179G>T
NM_001368062.3:c.6132+179G>T	NP_001354991.2:n.6132+179G>T
NM_001378609.3:c.6267+179G>T MANE Select	NP_001365538.2:n.6267+179G>T
NM_001378610.3:c.6267+179G>T	NP_001365539.2:n.6267+179G>T
NM_173591.7:c.6267+179G>T	NP_775862.4:n.6267+179G>T