Canonical Allele Identifier: CA2639748374

Gene: USH1G

Linked Data

• gnomAD v4: 17-74922848-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922848G>A , CM000679.2:g.74922848G>A	GRCh38
NC_000017.10:g.72918943G>A , CM000679.1:g.72918943G>A	GRCh37
NC_000017.9:g.70430538G>A	NCBI36
NG_007882.1:g.5409C>T
NG_033062.1:g.3574G>A
NG_007882.2:g.5416C>T
NG_033062.2:g.3574G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.164+62C>T MANE Select	ENSP00000480279.1:n.164+62C>T
ENST00000579243.1:c.164+62C>T	ENSP00000462568.1:n.164+62C>T
ENST00000614341.4:c.164+62C>T	ENSP00000480279.1:n.164+62C>T
NM_001282489.2:c.-93+62C>T	NP_001269418.1:n.-93+62C>T
NM_173477.4:c.164+62C>T	NP_775748.2:n.164+62C>T
XM_011524296.1:c.-418C>T	XP_011522598.1:n.-418C>T
XM_011524296.2:c.-418C>T	XP_011522598.1:n.-418C>T
NM_173477.5:c.164+62C>T MANE Select	NP_775748.2:n.164+62C>T
NM_001282489.3:c.-93+62C>T	NP_001269418.1:n.-93+62C>T