Canonical Allele Identifier: CA400962485

Gene: USH1G

Linked Data

• COSMIC: COSM5190277
• MyVariant Identifiers: chr17:g.72916002G>T (hg19) ; chr17:g.74919907G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919907G>T , CM000679.2:g.74919907G>T	GRCh38
NC_000017.10:g.72916002G>T , CM000679.1:g.72916002G>T	GRCh37
NC_000017.9:g.70427597G>T	NCBI36
NG_007882.1:g.8350C>A
NG_033062.1:g.633G>T
NG_007882.2:g.8357C>A
NG_033062.2:g.633G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.929C>A MANE Select	ENSP00000480279.1:p.Pro310His
ENST00000579243.1:c.*528C>A	ENSP00000462568.1:n.*528C>A
ENST00000614341.4:c.929C>A	ENSP00000480279.1:p.Pro310His
NM_001282489.2:c.620C>A	NP_001269418.1:p.Pro207His
NM_173477.4:c.929C>A	NP_775748.2:p.Pro310His
XM_011524296.1:c.620C>A	XP_011522598.1:p.Pro207His
XM_011524296.2:c.620C>A	XP_011522598.1:p.Pro207His
NM_173477.5:c.929C>A MANE Select	NP_775748.2:p.Pro310His
NM_001282489.3:c.620C>A	NP_001269418.1:p.Pro207His