Canonical Allele Identifier: CA400963594

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920096-A-C
• MyVariant Identifiers: chr17:g.72916191A>C (hg19) ; chr17:g.74920096A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920096A>C , CM000679.2:g.74920096A>C	GRCh38
NC_000017.10:g.72916191A>C , CM000679.1:g.72916191A>C	GRCh37
NC_000017.9:g.70427786A>C	NCBI36
NG_007882.1:g.8161T>G
NG_033062.1:g.822A>C
NG_007882.2:g.8168T>G
NG_033062.2:g.822A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.740T>G MANE Select	ENSP00000480279.1:p.Leu247Arg
ENST00000579243.1:c.*339T>G	ENSP00000462568.1:n.*339T>G
ENST00000614341.4:c.740T>G	ENSP00000480279.1:p.Leu247Arg
NM_001282489.2:c.431T>G	NP_001269418.1:p.Leu144Arg
NM_173477.4:c.740T>G	NP_775748.2:p.Leu247Arg
XM_011524296.1:c.431T>G	XP_011522598.1:p.Leu144Arg
XM_011524296.2:c.431T>G	XP_011522598.1:p.Leu144Arg
NM_173477.5:c.740T>G MANE Select	NP_775748.2:p.Leu247Arg
NM_001282489.3:c.431T>G	NP_001269418.1:p.Leu144Arg