Canonical Allele Identifier: CA2658235297

Gene: OTOF

Linked Data

• gnomAD v4: 2-26470517-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26470517G>A , CM000664.2:g.26470517G>A	GRCh38
NC_000002.11:g.26693385G>A , CM000664.1:g.26693385G>A	GRCh37
NC_000002.10:g.26546889G>A	NCBI36
NG_009937.1:g.93182C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.4023+76C>T MANE Select	ENSP00000272371.2:n.4023+76C>T
ENST00000339598.8:c.1722+76C>T MANE Plus Clinical	ENSP00000344521.3:n.1722+76C>T
ENST00000402415.8:c.1782+76C>T	ENSP00000383906.4:n.1782+76C>T
ENST00000272371.6:c.4023+76C>T	ENSP00000272371.2:n.4023+76C>T
ENST00000338581.10:c.1722+76C>T	ENSP00000345137.6:n.1722+76C>T
ENST00000339598.7:c.1722+76C>T	ENSP00000344521.3:n.1722+76C>T
ENST00000402415.7:c.1953+76C>T	ENSP00000383906.3:n.1953+76C>T
ENST00000403946.7:c.4023+76C>T	ENSP00000385255.3:n.4023+76C>T
NM_001287489.1:c.4023+76C>T	NP_001274418.1:n.4023+76C>T
NM_004802.3:c.1722+76C>T	NP_004793.2:n.1722+76C>T
NM_194248.2:c.4023+76C>T	NP_919224.1:n.4023+76C>T
NM_194322.2:c.1953+76C>T	NP_919303.1:n.1953+76C>T
NM_194323.2:c.1722+76C>T	NP_919304.1:n.1722+76C>T
XM_005264644.2:c.4008+76C>T	XP_005264701.1:n.4008+76C>T
XM_011533185.1:c.4068+76C>T	XP_011531487.1:n.4068+76C>T
XM_017005338.1:c.3963+76C>T	XP_016860827.1:n.3963+76C>T
NM_001287489.2:c.4023+76C>T	NP_001274418.1:n.4023+76C>T
NM_004802.4:c.1722+76C>T	NP_004793.2:n.1722+76C>T
NM_194248.3:c.4023+76C>T MANE Select	NP_919224.1:n.4023+76C>T
NM_194322.3:c.1953+76C>T	NP_919303.1:n.1953+76C>T
NM_194323.3:c.1722+76C>T MANE Plus Clinical	NP_919304.1:n.1722+76C>T