Canonical Allele Identifier: CA400963238

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920039-T-A
• MyVariant Identifiers: chr17:g.72916134T>A (hg19) ; chr17:g.74920039T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920039T>A , CM000679.2:g.74920039T>A	GRCh38
NC_000017.10:g.72916134T>A , CM000679.1:g.72916134T>A	GRCh37
NC_000017.9:g.70427729T>A	NCBI36
NG_007882.1:g.8218A>T
NG_033062.1:g.765T>A
NG_007882.2:g.8225A>T
NG_033062.2:g.765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.797A>T MANE Select	ENSP00000480279.1:p.Glu266Val
ENST00000579243.1:c.*396A>T	ENSP00000462568.1:n.*396A>T
ENST00000614341.4:c.797A>T	ENSP00000480279.1:p.Glu266Val
NM_001282489.2:c.488A>T	NP_001269418.1:p.Glu163Val
NM_173477.4:c.797A>T	NP_775748.2:p.Glu266Val
XM_011524296.1:c.488A>T	XP_011522598.1:p.Glu163Val
XM_011524296.2:c.488A>T	XP_011522598.1:p.Glu163Val
NM_173477.5:c.797A>T MANE Select	NP_775748.2:p.Glu266Val
NM_001282489.3:c.488A>T	NP_001269418.1:p.Glu163Val