Canonical Allele Identifier: CA400963852

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920147-G-C
• MyVariant Identifiers: chr17:g.72916242G>C (hg19) ; chr17:g.74920147G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920147G>C , CM000679.2:g.74920147G>C	GRCh38
NC_000017.10:g.72916242G>C , CM000679.1:g.72916242G>C	GRCh37
NC_000017.9:g.70427837G>C	NCBI36
NG_007882.1:g.8110C>G
NG_033062.1:g.873G>C
NG_007882.2:g.8117C>G
NG_033062.2:g.873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.689C>G MANE Select	ENSP00000480279.1:p.Thr230Ser
ENST00000579243.1:c.*288C>G	ENSP00000462568.1:n.*288C>G
ENST00000614341.4:c.689C>G	ENSP00000480279.1:p.Thr230Ser
NM_001282489.2:c.380C>G	NP_001269418.1:p.Thr127Ser
NM_173477.4:c.689C>G	NP_775748.2:p.Thr230Ser
XM_011524296.1:c.380C>G	XP_011522598.1:p.Thr127Ser
XM_011524296.2:c.380C>G	XP_011522598.1:p.Thr127Ser
NM_173477.5:c.689C>G MANE Select	NP_775748.2:p.Thr230Ser
NM_001282489.3:c.380C>G	NP_001269418.1:p.Thr127Ser