Canonical Allele Identifier: CA400961254

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919538-A-G
• MyVariant Identifiers: chr17:g.72915633A>G (hg19) ; chr17:g.74919538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919538A>G , CM000679.2:g.74919538A>G	GRCh38
NC_000017.10:g.72915633A>G , CM000679.1:g.72915633A>G	GRCh37
NC_000017.9:g.70427228A>G	NCBI36
NG_007882.1:g.8719T>C
NG_033062.1:g.264A>G
NG_007882.2:g.8726T>C
NG_033062.2:g.264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1298T>C MANE Select	ENSP00000480279.1:p.Leu433Pro
ENST00000579243.1:c.*897T>C	ENSP00000462568.1:n.*897T>C
ENST00000614341.4:c.1298T>C	ENSP00000480279.1:p.Leu433Pro
NM_001282489.2:c.989T>C	NP_001269418.1:p.Leu330Pro
NM_173477.4:c.1298T>C	NP_775748.2:p.Leu433Pro
XM_011524296.1:c.989T>C	XP_011522598.1:p.Leu330Pro
XM_011524296.2:c.989T>C	XP_011522598.1:p.Leu330Pro
NM_173477.5:c.1298T>C MANE Select	NP_775748.2:p.Leu433Pro
NM_001282489.3:c.989T>C	NP_001269418.1:p.Leu330Pro