Canonical Allele Identifier: CA400961771

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919745-T-C
• MyVariant Identifiers: chr17:g.72915840T>C (hg19) ; chr17:g.74919745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919745T>C , CM000679.2:g.74919745T>C	GRCh38
NC_000017.10:g.72915840T>C , CM000679.1:g.72915840T>C	GRCh37
NC_000017.9:g.70427435T>C	NCBI36
NG_007882.1:g.8512A>G
NG_033062.1:g.471T>C
NG_007882.2:g.8519A>G
NG_033062.2:g.471T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1091A>G MANE Select	ENSP00000480279.1:p.Gln364Arg
ENST00000579243.1:c.*690A>G	ENSP00000462568.1:n.*690A>G
ENST00000614341.4:c.1091A>G	ENSP00000480279.1:p.Gln364Arg
NM_001282489.2:c.782A>G	NP_001269418.1:p.Gln261Arg
NM_173477.4:c.1091A>G	NP_775748.2:p.Gln364Arg
XM_011524296.1:c.782A>G	XP_011522598.1:p.Gln261Arg
XM_011524296.2:c.782A>G	XP_011522598.1:p.Gln261Arg
NM_173477.5:c.1091A>G MANE Select	NP_775748.2:p.Gln364Arg
NM_001282489.3:c.782A>G	NP_001269418.1:p.Gln261Arg