Canonical Allele Identifier: CA8753920

Gene: USH1G

Linked Data

• ClinVar Variation Id: 513512
• ClinVar RCV Id: RCV001437426 ; RCV001124405
• dbSNP Id: rs199724052
• ExAC: 17:72915761 G / A
• gnomAD v2: 17-72915761-G-A
• gnomAD v3: 17-74919666-G-A
• gnomAD v4: 17-74919666-G-A
• MyVariant Identifiers: chr17:g.72915761G>A (hg19) ; chr17:g.74919666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919666G>A , CM000679.2:g.74919666G>A	GRCh38
NC_000017.10:g.72915761G>A , CM000679.1:g.72915761G>A	GRCh37
NC_000017.9:g.70427356G>A	NCBI36
NG_007882.1:g.8591C>T
NG_033062.1:g.392G>A
NG_007882.2:g.8598C>T
NG_033062.2:g.392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1170C>T MANE Select	ENSP00000480279.1:p.Ser390=
ENST00000579243.1:c.*769C>T	ENSP00000462568.1:n.*769C>T
ENST00000614341.4:c.1170C>T	ENSP00000480279.1:p.Ser390=
NM_001282489.2:c.861C>T	NP_001269418.1:p.Ser287=
NM_173477.4:c.1170C>T	NP_775748.2:p.Ser390=
XM_011524296.1:c.861C>T	XP_011522598.1:p.Ser287=
XM_011524296.2:c.861C>T	XP_011522598.1:p.Ser287=
NM_173477.5:c.1170C>T MANE Select	NP_775748.2:p.Ser390=
NM_001282489.3:c.861C>T	NP_001269418.1:p.Ser287=