Canonical Allele Identifier: CA400961773

Gene: USH1G

Linked Data

• dbSNP Id: rs1488514247
• gnomAD v2: 17-72915841-G-A
• gnomAD v3: 17-74919746-G-A
• gnomAD v4: 17-74919746-G-A
• MyVariant Identifiers: chr17:g.72915841G>A (hg19) ; chr17:g.74919746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919746G>A , CM000679.2:g.74919746G>A	GRCh38
NC_000017.10:g.72915841G>A , CM000679.1:g.72915841G>A	GRCh37
NC_000017.9:g.70427436G>A	NCBI36
NG_007882.1:g.8511C>T
NG_033062.1:g.472G>A
NG_007882.2:g.8518C>T
NG_033062.2:g.472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1090C>T MANE Select	ENSP00000480279.1:p.Gln364Ter
ENST00000579243.1:c.*689C>T	ENSP00000462568.1:n.*689C>T
ENST00000614341.4:c.1090C>T	ENSP00000480279.1:p.Gln364Ter
NM_001282489.2:c.781C>T	NP_001269418.1:p.Gln261Ter
NM_173477.4:c.1090C>T	NP_775748.2:p.Gln364Ter
XM_011524296.1:c.781C>T	XP_011522598.1:p.Gln261Ter
XM_011524296.2:c.781C>T	XP_011522598.1:p.Gln261Ter
NM_173477.5:c.1090C>T MANE Select	NP_775748.2:p.Gln364Ter
NM_001282489.3:c.781C>T	NP_001269418.1:p.Gln261Ter