Canonical Allele Identifier: CA8753935

Gene: USH1G

Linked Data

• dbSNP Id: rs200613072
• ExAC: 17:72915849 T / G
• gnomAD v2: 17-72915849-T-G
• MyVariant Identifiers: chr17:g.72915849T>G (hg19) ; chr17:g.74919754T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919754T>G , CM000679.2:g.74919754T>G	GRCh38
NC_000017.10:g.72915849T>G , CM000679.1:g.72915849T>G	GRCh37
NC_000017.9:g.70427444T>G	NCBI36
NG_007882.1:g.8503A>C
NG_033062.1:g.480T>G
NG_007882.2:g.8510A>C
NG_033062.2:g.480T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1082A>C MANE Select	ENSP00000480279.1:p.Asn361Thr
ENST00000579243.1:c.*681A>C	ENSP00000462568.1:n.*681A>C
ENST00000614341.4:c.1082A>C	ENSP00000480279.1:p.Asn361Thr
NM_001282489.2:c.773A>C	NP_001269418.1:p.Asn258Thr
NM_173477.4:c.1082A>C	NP_775748.2:p.Asn361Thr
XM_011524296.1:c.773A>C	XP_011522598.1:p.Asn258Thr
XM_011524296.2:c.773A>C	XP_011522598.1:p.Asn258Thr
NM_173477.5:c.1082A>C MANE Select	NP_775748.2:p.Asn361Thr
NM_001282489.3:c.773A>C	NP_001269418.1:p.Asn258Thr