Canonical Allele Identifier: CA400963287

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920046-G-C
• MyVariant Identifiers: chr17:g.72916141G>C (hg19) ; chr17:g.74920046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920046G>C , CM000679.2:g.74920046G>C	GRCh38
NC_000017.10:g.72916141G>C , CM000679.1:g.72916141G>C	GRCh37
NC_000017.9:g.70427736G>C	NCBI36
NG_007882.1:g.8211C>G
NG_033062.1:g.772G>C
NG_007882.2:g.8218C>G
NG_033062.2:g.772G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.790C>G MANE Select	ENSP00000480279.1:p.Pro264Ala
ENST00000579243.1:c.*389C>G	ENSP00000462568.1:n.*389C>G
ENST00000614341.4:c.790C>G	ENSP00000480279.1:p.Pro264Ala
NM_001282489.2:c.481C>G	NP_001269418.1:p.Pro161Ala
NM_173477.4:c.790C>G	NP_775748.2:p.Pro264Ala
XM_011524296.1:c.481C>G	XP_011522598.1:p.Pro161Ala
XM_011524296.2:c.481C>G	XP_011522598.1:p.Pro161Ala
NM_173477.5:c.790C>G MANE Select	NP_775748.2:p.Pro264Ala
NM_001282489.3:c.481C>G	NP_001269418.1:p.Pro161Ala