Canonical Allele Identifier: CA502036645

Gene: USH1G

Linked Data

• dbSNP Id: rs370027457
• gnomAD v3: 17-74920155-G-C
• gnomAD v4: 17-74920155-G-C
• MyVariant Identifiers: chr17:g.72916250G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920155G>C , CM000679.2:g.74920155G>C	GRCh38
NC_000017.10:g.72916250G>C , CM000679.1:g.72916250G>C	GRCh37
NC_000017.9:g.70427845G>C	NCBI36
NG_007882.1:g.8102C>G
NG_033062.1:g.881G>C
NG_007882.2:g.8109C>G
NG_033062.2:g.881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.681C>G MANE Select	ENSP00000480279.1:p.Gly227=
ENST00000579243.1:c.*280C>G	ENSP00000462568.1:n.*280C>G
ENST00000614341.4:c.681C>G	ENSP00000480279.1:p.Gly227=
NM_001282489.2:c.372C>G	NP_001269418.1:p.Gly124=
NM_173477.4:c.681C>G	NP_775748.2:p.Gly227=
XM_011524296.1:c.372C>G	XP_011522598.1:p.Gly124=
XM_011524296.2:c.372C>G	XP_011522598.1:p.Gly124=
NM_173477.5:c.681C>G MANE Select	NP_775748.2:p.Gly227=
NM_001282489.3:c.372C>G	NP_001269418.1:p.Gly124=