Canonical Allele Identifier: CA400961374

Gene: USH1G

Linked Data

• dbSNP Id: rs1203217501
• gnomAD v4: 17-74919590-C-G
• MyVariant Identifiers: chr17:g.72915685C>G (hg19) ; chr17:g.74919590C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1246G>C MANE Select	ENSP00000480279.1:p.Glu416Gln
ENST00000579243.1:c.*845G>C	ENSP00000462568.1:n.*845G>C
ENST00000614341.4:c.1246G>C	ENSP00000480279.1:p.Glu416Gln
NM_001282489.2:c.937G>C	NP_001269418.1:p.Glu313Gln
NM_173477.4:c.1246G>C	NP_775748.2:p.Glu416Gln
XM_011524296.1:c.937G>C	XP_011522598.1:p.Glu313Gln
XM_011524296.2:c.937G>C	XP_011522598.1:p.Glu313Gln
NM_173477.5:c.1246G>C MANE Select	NP_775748.2:p.Glu416Gln
NM_001282489.3:c.937G>C	NP_001269418.1:p.Glu313Gln