Canonical Allele Identifier: CA400964063

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920177-A-G
• MyVariant Identifiers: chr17:g.72916272A>G (hg19) ; chr17:g.74920177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920177A>G , CM000679.2:g.74920177A>G	GRCh38
NC_000017.10:g.72916272A>G , CM000679.1:g.72916272A>G	GRCh37
NC_000017.9:g.70427867A>G	NCBI36
NG_007882.1:g.8080T>C
NG_033062.1:g.903A>G
NG_007882.2:g.8087T>C
NG_033062.2:g.903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.659T>C MANE Select	ENSP00000480279.1:p.Leu220Pro
ENST00000579243.1:c.*258T>C	ENSP00000462568.1:n.*258T>C
ENST00000614341.4:c.659T>C	ENSP00000480279.1:p.Leu220Pro
NM_001282489.2:c.350T>C	NP_001269418.1:p.Leu117Pro
NM_173477.4:c.659T>C	NP_775748.2:p.Leu220Pro
XM_011524296.1:c.350T>C	XP_011522598.1:p.Leu117Pro
XM_011524296.2:c.350T>C	XP_011522598.1:p.Leu117Pro
NM_173477.5:c.659T>C MANE Select	NP_775748.2:p.Leu220Pro
NM_001282489.3:c.350T>C	NP_001269418.1:p.Leu117Pro