Canonical Allele Identifier: CA8754027

Gene: USH1G

Linked Data

• dbSNP Id: rs774571563
• ExAC: 17:72916276 T / G
• gnomAD v2: 17-72916276-T-G
• gnomAD v3: 17-74920181-T-G
• gnomAD v4: 17-74920181-T-G
• MyVariant Identifiers: chr17:g.72916276T>G (hg19) ; chr17:g.74920181T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920181T>G , CM000679.2:g.74920181T>G	GRCh38
NC_000017.10:g.72916276T>G , CM000679.1:g.72916276T>G	GRCh37
NC_000017.9:g.70427871T>G	NCBI36
NG_007882.1:g.8076A>C
NG_033062.1:g.907T>G
NG_007882.2:g.8083A>C
NG_033062.2:g.907T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.655A>C MANE Select	ENSP00000480279.1:p.Lys219Gln
ENST00000579243.1:c.*254A>C	ENSP00000462568.1:n.*254A>C
ENST00000614341.4:c.655A>C	ENSP00000480279.1:p.Lys219Gln
NM_001282489.2:c.346A>C	NP_001269418.1:p.Lys116Gln
NM_173477.4:c.655A>C	NP_775748.2:p.Lys219Gln
XM_011524296.1:c.346A>C	XP_011522598.1:p.Lys116Gln
XM_011524296.2:c.346A>C	XP_011522598.1:p.Lys116Gln
NM_173477.5:c.655A>C MANE Select	NP_775748.2:p.Lys219Gln
NM_001282489.3:c.346A>C	NP_001269418.1:p.Lys116Gln