Canonical Allele Identifier: CA400961373

Gene: USH1G

Linked Data

• ClinVar Variation Id: 967042
• ClinVar RCV Id: RCV001241857
• dbSNP Id: rs1203217501
• gnomAD v4: 17-74919590-C-T
• MyVariant Identifiers: chr17:g.72915685C>T (hg19) ; chr17:g.74919590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919590C>T , CM000679.2:g.74919590C>T	GRCh38
NC_000017.10:g.72915685C>T , CM000679.1:g.72915685C>T	GRCh37
NC_000017.9:g.70427280C>T	NCBI36
NG_007882.1:g.8667G>A
NG_033062.1:g.316C>T
NG_007882.2:g.8674G>A
NG_033062.2:g.316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1246G>A MANE Select	ENSP00000480279.1:p.Glu416Lys
ENST00000579243.1:c.*845G>A	ENSP00000462568.1:n.*845G>A
ENST00000614341.4:c.1246G>A	ENSP00000480279.1:p.Glu416Lys
NM_001282489.2:c.937G>A	NP_001269418.1:p.Glu313Lys
NM_173477.4:c.1246G>A	NP_775748.2:p.Glu416Lys
XM_011524296.1:c.937G>A	XP_011522598.1:p.Glu313Lys
XM_011524296.2:c.937G>A	XP_011522598.1:p.Glu313Lys
NM_173477.5:c.1246G>A MANE Select	NP_775748.2:p.Glu416Lys
NM_001282489.3:c.937G>A	NP_001269418.1:p.Glu313Lys