Canonical Allele Identifier: CA400963580

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920093-T-C
• MyVariant Identifiers: chr17:g.72916188T>C (hg19) ; chr17:g.74920093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920093T>C , CM000679.2:g.74920093T>C	GRCh38
NC_000017.10:g.72916188T>C , CM000679.1:g.72916188T>C	GRCh37
NC_000017.9:g.70427783T>C	NCBI36
NG_007882.1:g.8164A>G
NG_033062.1:g.819T>C
NG_007882.2:g.8171A>G
NG_033062.2:g.819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.743A>G MANE Select	ENSP00000480279.1:p.Gln248Arg
ENST00000579243.1:c.*342A>G	ENSP00000462568.1:n.*342A>G
ENST00000614341.4:c.743A>G	ENSP00000480279.1:p.Gln248Arg
NM_001282489.2:c.434A>G	NP_001269418.1:p.Gln145Arg
NM_173477.4:c.743A>G	NP_775748.2:p.Gln248Arg
XM_011524296.1:c.434A>G	XP_011522598.1:p.Gln145Arg
XM_011524296.2:c.434A>G	XP_011522598.1:p.Gln145Arg
NM_173477.5:c.743A>G MANE Select	NP_775748.2:p.Gln248Arg
NM_001282489.3:c.434A>G	NP_001269418.1:p.Gln145Arg