Canonical Allele Identifier: CA1563000
Community Standard Title: NM_194248.3(OTOF):c.4918A>G (p.Asn1640Asp)
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26464911T>C , CM000664.2:g.26464911T>C GRCh38
NC_000002.11:g.26687779T>C , CM000664.1:g.26687779T>C GRCh37
NC_000002.10:g.26541283T>C NCBI36
NG_009937.1:g.98788A>G

Transcript Alleles

HGVS Amino-acid Change
NM_194248.3:c.4918A>G MANE Select NP_919224.1:p.Asn1640Asp
ENST00000272371.7:c.4918A>G MANE Select ENSP00000272371.2:p.Asn1640Asp
NM_194323.3:c.2617A>G MANE Plus Clinical NP_919304.1:p.Asn873Asp
ENST00000339598.8:c.2617A>G MANE Plus Clinical ENSP00000344521.3:p.Asn873Asp
NM_001287489.1:c.4918A>G NP_001274418.1:p.Asn1640Asp
NM_001287489.2:c.4918A>G NP_001274418.1:p.Asn1640Asp
NM_004802.3:c.2617A>G NP_004793.2:p.Asn873Asp
NM_004802.4:c.2617A>G NP_004793.2:p.Asn873Asp
NM_194248.2:c.4918A>G NP_919224.1:p.Asn1640Asp
NM_194322.2:c.2848A>G NP_919303.1:p.Asn950Asp
NM_194322.3:c.2848A>G NP_919303.1:p.Asn950Asp
NM_194323.2:c.2617A>G NP_919304.1:p.Asn873Asp
ENST00000272371.6:c.4918A>G ENSP00000272371.2:p.Asn1640Asp
ENST00000338581.10:c.2617A>G ENSP00000345137.6:p.Asn873Asp
ENST00000339598.7:c.2617A>G ENSP00000344521.3:p.Asn873Asp
ENST00000402415.7:c.2848A>G ENSP00000383906.3:p.Asn950Asp
ENST00000402415.8:c.2677A>G ENSP00000383906.4:p.Asn893Asp
ENST00000403946.7:c.4918A>G ENSP00000385255.3:p.Asn1640Asp
ENST00000464574.1:n.667A>G
XM_005264644.2:c.4903A>G XP_005264701.1:p.Asn1635Asp
XM_011533185.1:c.4963A>G XP_011531487.1:p.Asn1655Asp
XM_017005338.1:c.4858A>G XP_016860827.1:p.Asn1620Asp