Canonical Allele Identifier: CA2275255025

Gene: USH1G

Linked Data

• dbSNP Id: rs2038901100
• gnomAD v4: 17-74919365-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919365C>A , CM000679.2:g.74919365C>A	GRCh38
NC_000017.10:g.72915460C>A , CM000679.1:g.72915460C>A	GRCh37
NC_000017.9:g.70427055C>A	NCBI36
NG_007882.1:g.8892G>T
NG_033062.1:g.91C>A
NG_007882.2:g.8899G>T
NG_033062.2:g.91C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.1382+89G>T MANE Select	ENSP00000480279.1:n.1382+89G>T
ENST00000579243.1:c.*981+89G>T	ENSP00000462568.1:n.*981+89G>T
ENST00000614341.4:c.1382+89G>T	ENSP00000480279.1:n.1382+89G>T
NM_001282489.2:c.1073+89G>T	NP_001269418.1:n.1073+89G>T
NM_173477.4:c.1382+89G>T	NP_775748.2:n.1382+89G>T
XM_011524296.1:c.1073+89G>T	XP_011522598.1:n.1073+89G>T
XM_011524296.2:c.1073+89G>T	XP_011522598.1:n.1073+89G>T
NM_173477.5:c.1382+89G>T MANE Select	NP_775748.2:n.1382+89G>T
NM_001282489.3:c.1073+89G>T	NP_001269418.1:n.1073+89G>T