Canonical Allele Identifier: CA10640501

Linked Data

ClinVar Variation Id: 325060
ClinVar RCV Id: RCV000367489
dbSNP Id: rs570755897

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