Canonical Allele Identifier: CA502036685

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919909-G-C
• MyVariant Identifiers: chr17:g.72916004G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919909G>C , CM000679.2:g.74919909G>C	GRCh38
NC_000017.10:g.72916004G>C , CM000679.1:g.72916004G>C	GRCh37
NC_000017.9:g.70427599G>C	NCBI36
NG_007882.1:g.8348C>G
NG_033062.1:g.635G>C
NG_007882.2:g.8355C>G
NG_033062.2:g.635G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.927C>G MANE Select	ENSP00000480279.1:p.Arg309=
ENST00000579243.1:c.*526C>G	ENSP00000462568.1:n.*526C>G
ENST00000614341.4:c.927C>G	ENSP00000480279.1:p.Arg309=
NM_001282489.2:c.618C>G	NP_001269418.1:p.Arg206=
NM_173477.4:c.927C>G	NP_775748.2:p.Arg309=
XM_011524296.1:c.618C>G	XP_011522598.1:p.Arg206=
XM_011524296.2:c.618C>G	XP_011522598.1:p.Arg206=
NM_173477.5:c.927C>G MANE Select	NP_775748.2:p.Arg309=
NM_001282489.3:c.618C>G	NP_001269418.1:p.Arg206=