Canonical Allele Identifier: CA2639748357

Gene: USH1G

Linked Data

• gnomAD v4: 17-74922835-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922835G>A , CM000679.2:g.74922835G>A	GRCh38
NC_000017.10:g.72918930G>A , CM000679.1:g.72918930G>A	GRCh37
NC_000017.9:g.70430525G>A	NCBI36
NG_007882.1:g.5422C>T
NG_033062.1:g.3561G>A
NG_007882.2:g.5429C>T
NG_033062.2:g.3561G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.164+75C>T MANE Select	ENSP00000480279.1:n.164+75C>T
ENST00000579243.1:c.164+75C>T	ENSP00000462568.1:n.164+75C>T
ENST00000614341.4:c.164+75C>T	ENSP00000480279.1:n.164+75C>T
NM_001282489.2:c.-93+75C>T	NP_001269418.1:n.-93+75C>T
NM_173477.4:c.164+75C>T	NP_775748.2:n.164+75C>T
XM_011524296.1:c.-405C>T	XP_011522598.1:n.-405C>T
XM_011524296.2:c.-405C>T	XP_011522598.1:n.-405C>T
NM_173477.5:c.164+75C>T MANE Select	NP_775748.2:n.164+75C>T
NM_001282489.3:c.-93+75C>T	NP_001269418.1:n.-93+75C>T