Canonical Allele Identifier: CA400963693

Gene: USH1G

Linked Data

• dbSNP Id: rs775371036
• gnomAD v2: 17-72916211-G-C
• gnomAD v3: 17-74920116-G-C
• gnomAD v4: 17-74920116-G-C
• MyVariant Identifiers: chr17:g.72916211G>C (hg19) ; chr17:g.74920116G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920116G>C , CM000679.2:g.74920116G>C	GRCh38
NC_000017.10:g.72916211G>C , CM000679.1:g.72916211G>C	GRCh37
NC_000017.9:g.70427806G>C	NCBI36
NG_007882.1:g.8141C>G
NG_033062.1:g.842G>C
NG_007882.2:g.8148C>G
NG_033062.2:g.842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.720C>G MANE Select	ENSP00000480279.1:p.Ser240Arg
ENST00000579243.1:c.*319C>G	ENSP00000462568.1:n.*319C>G
ENST00000614341.4:c.720C>G	ENSP00000480279.1:p.Ser240Arg
NM_001282489.2:c.411C>G	NP_001269418.1:p.Ser137Arg
NM_173477.4:c.720C>G	NP_775748.2:p.Ser240Arg
XM_011524296.1:c.411C>G	XP_011522598.1:p.Ser137Arg
XM_011524296.2:c.411C>G	XP_011522598.1:p.Ser137Arg
NM_173477.5:c.720C>G MANE Select	NP_775748.2:p.Ser240Arg
NM_001282489.3:c.411C>G	NP_001269418.1:p.Ser137Arg