Canonical Allele Identifier: CA293984121

Gene: USH1G

Linked Data

• dbSNP Id: rs974652919
• gnomAD v2: 17-72916117-G-A
• gnomAD v3: 17-74920022-G-A
• gnomAD v4: 17-74920022-G-A
• MyVariant Identifiers: chr17:g.72916117G>A (hg19) ; chr17:g.74920022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920022G>A , CM000679.2:g.74920022G>A	GRCh38
NC_000017.10:g.72916117G>A , CM000679.1:g.72916117G>A	GRCh37
NC_000017.9:g.70427712G>A	NCBI36
NG_007882.1:g.8235C>T
NG_033062.1:g.748G>A
NG_007882.2:g.8242C>T
NG_033062.2:g.748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.814C>T MANE Select	ENSP00000480279.1:p.Leu272Phe
ENST00000579243.1:c.*413C>T	ENSP00000462568.1:n.*413C>T
ENST00000614341.4:c.814C>T	ENSP00000480279.1:p.Leu272Phe
NM_001282489.2:c.505C>T	NP_001269418.1:p.Leu169Phe
NM_173477.4:c.814C>T	NP_775748.2:p.Leu272Phe
XM_011524296.1:c.505C>T	XP_011522598.1:p.Leu169Phe
XM_011524296.2:c.505C>T	XP_011522598.1:p.Leu169Phe
NM_173477.5:c.814C>T MANE Select	NP_775748.2:p.Leu272Phe
NM_001282489.3:c.505C>T	NP_001269418.1:p.Leu169Phe