Canonical Allele Identifier: CA10640501

Gene: OTOP2 USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74923246C>G , CM000679.2:g.74923246C>G	GRCh38
NC_000017.10:g.72919341C>G , CM000679.1:g.72919341C>G	GRCh37
NC_000017.9:g.70430936C>G	NCBI36
NG_007882.1:g.5011G>C
NG_033062.1:g.3972C>G
NG_007882.2:g.5018G>C
NG_033062.2:g.3972C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_173477.5:c.-173G>C (USH1G) MANE Select	NP_775748.2:n.-173G>C
ENST00000614341.5:c.-173G>C (USH1G) MANE Select	ENSP00000480279.1:n.-173G>C
NM_001282489.2:c.-429G>C (USH1G)	NP_001269418.1:n.-429G>C
NM_001282489.3:c.-429G>C (USH1G)	NP_001269418.1:n.-429G>C
NM_173477.4:c.-173G>C (USH1G)	NP_775748.2:n.-173G>C
ENST00000579243.1:c.-173G>C (USH1G)	ENSP00000462568.1:n.-173G>C
ENST00000580223.2:c.-231+212C>G (OTOP2)	ENSP00000463837.2:n.-231+212C>G
ENST00000614341.4:c.-173G>C (USH1G)	ENSP00000480279.1:n.-173G>C
XM_011525479.1:c.-231+212C>G (OTOP2)	XP_011523781.1:n.-231+212C>G
XM_011525479.2:c.-231+212C>G (OTOP2)	XP_011523781.1:n.-231+212C>G