Canonical Allele Identifier: CA400967991

Gene: USH1G

Linked Data

• dbSNP Id: rs1394276163
• gnomAD v2: 17-72919043-A-C
• MyVariant Identifiers: chr17:g.72919043A>C (hg19) ; chr17:g.74922948A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922948A>C , CM000679.2:g.74922948A>C	GRCh38
NC_000017.10:g.72919043A>C , CM000679.1:g.72919043A>C	GRCh37
NC_000017.9:g.70430638A>C	NCBI36
NG_007882.1:g.5309T>G
NG_033062.1:g.3674A>C
NG_007882.2:g.5316T>G
NG_033062.2:g.3674A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.126T>G MANE Select	ENSP00000480279.1:p.His42Gln
ENST00000579243.1:c.126T>G	ENSP00000462568.1:p.His42Gln
ENST00000614341.4:c.126T>G	ENSP00000480279.1:p.His42Gln
NM_001282489.2:c.-131T>G	NP_001269418.1:n.-131T>G
NM_173477.4:c.126T>G	NP_775748.2:p.His42Gln
NM_173477.5:c.126T>G MANE Select	NP_775748.2:p.His42Gln
NM_001282489.3:c.-131T>G	NP_001269418.1:n.-131T>G