Canonical Allele Identifier: CA400967996

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72919044T>A (hg19) ; chr17:g.74922949T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922949T>A , CM000679.2:g.74922949T>A	GRCh38
NC_000017.10:g.72919044T>A , CM000679.1:g.72919044T>A	GRCh37
NC_000017.9:g.70430639T>A	NCBI36
NG_007882.1:g.5308A>T
NG_033062.1:g.3675T>A
NG_007882.2:g.5315A>T
NG_033062.2:g.3675T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.125A>T MANE Select	ENSP00000480279.1:p.His42Leu
ENST00000579243.1:c.125A>T	ENSP00000462568.1:p.His42Leu
ENST00000614341.4:c.125A>T	ENSP00000480279.1:p.His42Leu
NM_001282489.2:c.-132A>T	NP_001269418.1:n.-132A>T
NM_173477.4:c.125A>T	NP_775748.2:p.His42Leu
NM_173477.5:c.125A>T MANE Select	NP_775748.2:p.His42Leu
NM_001282489.3:c.-132A>T	NP_001269418.1:n.-132A>T