Canonical Allele Identifier: CA8753840

Gene: USH1G

Linked Data

• ClinVar Variation Id: 325052
• ClinVar RCV Id: RCV000394761 ; RCV001556098
• dbSNP Id: rs199648830
• ExAC: 17:72914119 G / A
• gnomAD v2: 17-72914119-G-A
• gnomAD v3: 17-74918024-G-A
• gnomAD v4: 17-74918024-G-A
• MyVariant Identifiers: chr17:g.72914119G>A (hg19) ; chr17:g.74918024G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74918024G>A , CM000679.2:g.74918024G>A	GRCh38
NC_000017.10:g.72914119G>A , CM000679.1:g.72914119G>A	GRCh37
NC_000017.9:g.70425714G>A	NCBI36
NG_007882.1:g.10233C>T
NG_007882.2:g.10240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*49C>T MANE Select	ENSP00000480279.1:n.*49C>T
ENST00000579243.1:c.*1034C>T	ENSP00000462568.1:n.*1034C>T
ENST00000614341.4:c.*49C>T	ENSP00000480279.1:n.*49C>T
NM_001282489.2:c.*49C>T	NP_001269418.1:n.*49C>T
NM_173477.4:c.*49C>T	NP_775748.2:n.*49C>T
XM_011524296.1:c.*49C>T	XP_011522598.1:n.*49C>T
XM_011524296.2:c.*49C>T	XP_011522598.1:n.*49C>T
NM_173477.5:c.*49C>T MANE Select	NP_775748.2:n.*49C>T
NM_001282489.3:c.*49C>T	NP_001269418.1:n.*49C>T