Canonical Allele Identifier: CA2275253532

Gene: USH1G

Linked Data

• dbSNP Id: rs1598578936

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74916290A>C , CM000679.2:g.74916290A>C	GRCh38
NC_000017.10:g.72912382A>C , CM000679.1:g.72912382A>C	GRCh37
NC_000017.9:g.70423977A>C	NCBI36
NG_007882.1:g.11970T>G
NG_007882.2:g.11974T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*1783T>G MANE Select	ENSP00000480279.1:n.*1783T>G
ENST00000614341.4:c.*1783T>G	ENSP00000480279.1:n.*1783T>G
NM_001282489.2:c.*1783T>G	NP_001269418.1:n.*1783T>G
NM_173477.4:c.*1783T>G	NP_775748.2:n.*1783T>G
XM_011524296.1:c.*1783T>G	XP_011522598.1:n.*1783T>G
XM_011524296.2:c.*1783T>G	XP_011522598.1:n.*1783T>G
NM_173477.5:c.*1783T>G MANE Select	NP_775748.2:n.*1783T>G
NM_001282489.3:c.*1783T>G	NP_001269418.1:n.*1783T>G