Canonical Allele Identifier: CA142903
Community Standard Title: NM_194248.3(OTOF):c.4869C>T (p.Gly1623=)
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26464960G>A , CM000664.2:g.26464960G>A GRCh38
NC_000002.11:g.26687828G>A , CM000664.1:g.26687828G>A GRCh37
NC_000002.10:g.26541332G>A NCBI36
NG_009937.1:g.98739C>T

Transcript Alleles

HGVS Amino-acid Change
NM_194248.3:c.4869C>T MANE Select NP_919224.1:p.Gly1623=
ENST00000272371.7:c.4869C>T MANE Select ENSP00000272371.2:p.Gly1623=
NM_194323.3:c.2568C>T MANE Plus Clinical NP_919304.1:p.Gly856=
ENST00000339598.8:c.2568C>T MANE Plus Clinical ENSP00000344521.3:p.Gly856=
NM_001287489.1:c.4869C>T NP_001274418.1:p.Gly1623=
NM_001287489.2:c.4869C>T NP_001274418.1:p.Gly1623=
NM_004802.3:c.2568C>T NP_004793.2:p.Gly856=
NM_004802.4:c.2568C>T NP_004793.2:p.Gly856=
NM_194248.2:c.4869C>T NP_919224.1:p.Gly1623=
NM_194322.2:c.2799C>T NP_919303.1:p.Gly933=
NM_194322.3:c.2799C>T NP_919303.1:p.Gly933=
NM_194323.2:c.2568C>T NP_919304.1:p.Gly856=
ENST00000272371.6:c.4869C>T ENSP00000272371.2:p.Gly1623=
ENST00000338581.10:c.2568C>T ENSP00000345137.6:p.Gly856=
ENST00000339598.7:c.2568C>T ENSP00000344521.3:p.Gly856=
ENST00000402415.7:c.2799C>T ENSP00000383906.3:p.Gly933=
ENST00000402415.8:c.2628C>T ENSP00000383906.4:p.Gly876=
ENST00000403946.7:c.4869C>T ENSP00000385255.3:p.Gly1623=
ENST00000464574.1:n.618C>T
XM_005264644.2:c.4854C>T XP_005264701.1:p.Gly1618=
XM_011533185.1:c.4914C>T XP_011531487.1:p.Gly1638=
XM_017005338.1:c.4809C>T XP_016860827.1:p.Gly1603=