Canonical Allele Identifier: CA2275256755

Gene: USH1G

Linked Data

• dbSNP Id: rs2038960086
• gnomAD v4: 17-74922758-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922758C>T , CM000679.2:g.74922758C>T	GRCh38
NC_000017.10:g.72918853C>T , CM000679.1:g.72918853C>T	GRCh37
NC_000017.9:g.70430448C>T	NCBI36
NG_007882.1:g.5499G>A
NG_033062.1:g.3484C>T
NG_007882.2:g.5506G>A
NG_033062.2:g.3484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.164+152G>A MANE Select	ENSP00000480279.1:n.164+152G>A
ENST00000579243.1:c.164+152G>A	ENSP00000462568.1:n.164+152G>A
ENST00000614341.4:c.164+152G>A	ENSP00000480279.1:n.164+152G>A
NM_001282489.2:c.-93+152G>A	NP_001269418.1:n.-93+152G>A
NM_173477.4:c.164+152G>A	NP_775748.2:n.164+152G>A
XM_011524296.1:c.-328G>A	XP_011522598.1:n.-328G>A
XM_011524296.2:c.-328G>A	XP_011522598.1:n.-328G>A
NM_173477.5:c.164+152G>A MANE Select	NP_775748.2:n.164+152G>A
NM_001282489.3:c.-93+152G>A	NP_001269418.1:n.-93+152G>A