Canonical Allele Identifier: CA8753978

Gene: USH1G

Linked Data

• dbSNP Id: rs573443794
• ExAC: 17:72916046 C / G
• gnomAD v2: 17-72916046-C-G
• gnomAD v3: 17-74919951-C-G
• gnomAD v4: 17-74919951-C-G
• MyVariant Identifiers: chr17:g.72916046C>G (hg19) ; chr17:g.74919951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919951C>G , CM000679.2:g.74919951C>G	GRCh38
NC_000017.10:g.72916046C>G , CM000679.1:g.72916046C>G	GRCh37
NC_000017.9:g.70427641C>G	NCBI36
NG_007882.1:g.8306G>C
NG_033062.1:g.677C>G
NG_007882.2:g.8313G>C
NG_033062.2:g.677C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.885G>C MANE Select	ENSP00000480279.1:p.Ser295=
ENST00000579243.1:c.*484G>C	ENSP00000462568.1:n.*484G>C
ENST00000614341.4:c.885G>C	ENSP00000480279.1:p.Ser295=
NM_001282489.2:c.576G>C	NP_001269418.1:p.Ser192=
NM_173477.4:c.885G>C	NP_775748.2:p.Ser295=
XM_011524296.1:c.576G>C	XP_011522598.1:p.Ser192=
XM_011524296.2:c.576G>C	XP_011522598.1:p.Ser192=
NM_173477.5:c.885G>C MANE Select	NP_775748.2:p.Ser295=
NM_001282489.3:c.576G>C	NP_001269418.1:p.Ser192=