Canonical Allele Identifier: CA400962078

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919832-C-T
• MyVariant Identifiers: chr17:g.72915927C>T (hg19) ; chr17:g.74919832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919832C>T , CM000679.2:g.74919832C>T	GRCh38
NC_000017.10:g.72915927C>T , CM000679.1:g.72915927C>T	GRCh37
NC_000017.9:g.70427522C>T	NCBI36
NG_007882.1:g.8425G>A
NG_033062.1:g.558C>T
NG_007882.2:g.8432G>A
NG_033062.2:g.558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1004G>A MANE Select	ENSP00000480279.1:p.Gly335Asp
ENST00000579243.1:c.*603G>A	ENSP00000462568.1:n.*603G>A
ENST00000614341.4:c.1004G>A	ENSP00000480279.1:p.Gly335Asp
NM_001282489.2:c.695G>A	NP_001269418.1:p.Gly232Asp
NM_173477.4:c.1004G>A	NP_775748.2:p.Gly335Asp
XM_011524296.1:c.695G>A	XP_011522598.1:p.Gly232Asp
XM_011524296.2:c.695G>A	XP_011522598.1:p.Gly232Asp
NM_173477.5:c.1004G>A MANE Select	NP_775748.2:p.Gly335Asp
NM_001282489.3:c.695G>A	NP_001269418.1:p.Gly232Asp