Canonical Allele Identifier: CA400963970

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920163-G-T
• MyVariant Identifiers: chr17:g.72916258G>T (hg19) ; chr17:g.74920163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920163G>T , CM000679.2:g.74920163G>T	GRCh38
NC_000017.10:g.72916258G>T , CM000679.1:g.72916258G>T	GRCh37
NC_000017.9:g.70427853G>T	NCBI36
NG_007882.1:g.8094C>A
NG_033062.1:g.889G>T
NG_007882.2:g.8101C>A
NG_033062.2:g.889G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.673C>A MANE Select	ENSP00000480279.1:p.Gln225Lys
ENST00000579243.1:c.*272C>A	ENSP00000462568.1:n.*272C>A
ENST00000614341.4:c.673C>A	ENSP00000480279.1:p.Gln225Lys
NM_001282489.2:c.364C>A	NP_001269418.1:p.Gln122Lys
NM_173477.4:c.673C>A	NP_775748.2:p.Gln225Lys
XM_011524296.1:c.364C>A	XP_011522598.1:p.Gln122Lys
XM_011524296.2:c.364C>A	XP_011522598.1:p.Gln122Lys
NM_173477.5:c.673C>A MANE Select	NP_775748.2:p.Gln225Lys
NM_001282489.3:c.364C>A	NP_001269418.1:p.Gln122Lys