Canonical Allele Identifier: CA502036624
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038909427
MyVariant Identifiers: chr17:g.72915749G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919654G>A , CM000679.2:g.74919654G>A GRCh38
NC_000017.10:g.72915749G>A , CM000679.1:g.72915749G>A GRCh37
NC_000017.9:g.70427344G>A NCBI36
NG_007882.1:g.8603C>T
NG_033062.1:g.380G>A
NG_007882.2:g.8610C>T
NG_033062.2:g.380G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1182C>T MANE Select ENSP00000480279.1:p.Thr394=
ENST00000579243.1:c.*781C>T ENSP00000462568.1:n.*781C>T
ENST00000614341.4:c.1182C>T ENSP00000480279.1:p.Thr394=
NM_001282489.2:c.873C>T NP_001269418.1:p.Thr291=
NM_173477.4:c.1182C>T NP_775748.2:p.Thr394=
XM_011524296.1:c.873C>T XP_011522598.1:p.Thr291=
XM_011524296.2:c.873C>T XP_011522598.1:p.Thr291=
NM_173477.5:c.1182C>T MANE Select NP_775748.2:p.Thr394=
NM_001282489.3:c.873C>T NP_001269418.1:p.Thr291=