Canonical Allele Identifier: CA2639744030

Gene: USH1G

Linked Data

• gnomAD v4: 17-74917496-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917496A>G , CM000679.2:g.74917496A>G	GRCh38
NC_000017.10:g.72913590A>G , CM000679.1:g.72913590A>G	GRCh37
NC_000017.9:g.70425185A>G	NCBI36
NG_007882.1:g.10762T>C
NG_007882.2:g.10768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*577T>C MANE Select	ENSP00000480279.1:n.*577T>C
ENST00000614341.4:c.*577T>C	ENSP00000480279.1:n.*577T>C
NM_001282489.2:c.*577T>C	NP_001269418.1:n.*577T>C
NM_173477.4:c.*577T>C	NP_775748.2:n.*577T>C
XM_011524296.1:c.*577T>C	XP_011522598.1:n.*577T>C
XM_011524296.2:c.*577T>C	XP_011522598.1:n.*577T>C
NM_173477.5:c.*577T>C MANE Select	NP_775748.2:n.*577T>C
NM_001282489.3:c.*577T>C	NP_001269418.1:n.*577T>C