Canonical Allele Identifier: CA2620011015
Community Standard Title: NM_001378609.3(OTOGL):c.2225-103G>C
Gene: OTOGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80266348G>C , CM000674.2:g.80266348G>C GRCh38
NC_000012.11:g.80660128G>C , CM000674.1:g.80660128G>C GRCh37
NC_000012.10:g.79184259G>C NCBI36
NG_033008.1:g.61896G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378609.3:c.2225-103G>C MANE Select NP_001365538.2:n.2225-103G>C
ENST00000547103.7:c.2225-103G>C MANE Select ENSP00000447211.2:n.2225-103G>C
NM_001368062.1:c.2198-103G>C NP_001354991.1:n.2198-103G>C
NM_001368062.3:c.2225-103G>C NP_001354991.2:n.2225-103G>C
NM_001378610.3:c.2225-103G>C NP_001365539.2:n.2225-103G>C
NM_173591.3:c.2198-103G>C NP_775862.3:n.2198-103G>C
NM_173591.7:c.2225-103G>C NP_775862.4:n.2225-103G>C
ENST00000458043.6:c.2198-103G>C ENSP00000400895.2:n.2198-103G>C
ENST00000547103.5:c.2198-103G>C ENSP00000447211.1:n.2198-103G>C
ENST00000646859.1:c.2225-103G>C ENSP00000496036.1:n.2225-103G>C
XM_005268802.2:c.2249-103G>C XP_005268859.1:n.2249-103G>C
XM_005268802.3:c.2249-103G>C XP_005268859.1:n.2249-103G>C
XM_011538191.1:c.2249-103G>C XP_011536493.1:n.2249-103G>C
XM_011538192.1:c.2096-103G>C XP_011536494.1:n.2096-103G>C
XM_011538192.2:c.2096-103G>C XP_011536494.1:n.2096-103G>C
XM_011538193.1:c.1883-103G>C XP_011536495.1:n.1883-103G>C