Canonical Allele Identifier: CA8754029

Gene: USH1G

Linked Data

• dbSNP Id: rs767955984
• ExAC: 17:72916281 T / C
• gnomAD v2: 17-72916281-T-C
• gnomAD v4: 17-74920186-T-C
• MyVariant Identifiers: chr17:g.72916281T>C (hg19) ; chr17:g.74920186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920186T>C , CM000679.2:g.74920186T>C	GRCh38
NC_000017.10:g.72916281T>C , CM000679.1:g.72916281T>C	GRCh37
NC_000017.9:g.70427876T>C	NCBI36
NG_007882.1:g.8071A>G
NG_033062.1:g.912T>C
NG_007882.2:g.8078A>G
NG_033062.2:g.912T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.650A>G MANE Select	ENSP00000480279.1:p.Gln217Arg
ENST00000579243.1:c.*249A>G	ENSP00000462568.1:n.*249A>G
ENST00000614341.4:c.650A>G	ENSP00000480279.1:p.Gln217Arg
NM_001282489.2:c.341A>G	NP_001269418.1:p.Gln114Arg
NM_173477.4:c.650A>G	NP_775748.2:p.Gln217Arg
XM_011524296.1:c.341A>G	XP_011522598.1:p.Gln114Arg
XM_011524296.2:c.341A>G	XP_011522598.1:p.Gln114Arg
NM_173477.5:c.650A>G MANE Select	NP_775748.2:p.Gln217Arg
NM_001282489.3:c.341A>G	NP_001269418.1:p.Gln114Arg