Canonical Allele Identifier: CA385850047

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80238880-G-T
• MyVariant Identifiers: chr12:g.80632660G>T (hg19) ; chr12:g.80238880G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80238880G>T , CM000674.2:g.80238880G>T	GRCh38
NC_000012.11:g.80632660G>T , CM000674.1:g.80632660G>T	GRCh37
NC_000012.10:g.79156791G>T	NCBI36
NG_033008.1:g.34428G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547103.7:c.847G>T MANE Select	ENSP00000447211.2:p.Ala283Ser
ENST00000643417.1:n.1507G>T
ENST00000646859.1:c.847G>T	ENSP00000496036.1:p.Ala283Ser
ENST00000458043.6:c.820G>T	ENSP00000400895.2:p.Ala274Ser
ENST00000547103.5:c.820G>T	ENSP00000447211.1:p.Ala274Ser
NM_173591.3:c.820G>T	NP_775862.3:p.Ala274Ser
XM_005268802.2:c.871G>T	XP_005268859.1:p.Ala291Ser
XM_011538191.1:c.871G>T	XP_011536493.1:p.Ala291Ser
XM_011538192.1:c.718G>T	XP_011536494.1:p.Ala240Ser
XM_011538193.1:c.505G>T	XP_011536495.1:p.Ala169Ser
XM_005268802.3:c.871G>T	XP_005268859.1:p.Ala291Ser
XM_011538192.2:c.718G>T	XP_011536494.1:p.Ala240Ser
NM_001368062.1:c.820G>T	NP_001354991.1:p.Ala274Ser
NM_001368062.3:c.847G>T	NP_001354991.2:p.Ala283Ser
NM_001378609.3:c.847G>T MANE Select	NP_001365538.2:p.Ala283Ser
NM_001378610.3:c.847G>T	NP_001365539.2:p.Ala283Ser
NM_173591.7:c.847G>T	NP_775862.4:p.Ala283Ser