Canonical Allele Identifier: CA10646715

Gene: USH1G

Linked Data

• ClinVar Variation Id: 325033
• ClinVar RCV Id: RCV000313971
• dbSNP Id: rs8067775
• gnomAD v2: 17-72912509-A-G
• gnomAD v3: 17-74916417-A-G
• gnomAD v4: 17-74916417-A-G
• MyVariant Identifiers: chr17:g.72912509A>G (hg19) ; chr17:g.74916417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74916417A>G , CM000679.2:g.74916417A>G	GRCh38
NC_000017.10:g.72912509A>G , CM000679.1:g.72912509A>G	GRCh37
NC_000017.9:g.70424104A>G	NCBI36
NG_007882.1:g.11843T>C
NG_007882.2:g.11847T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.*1656T>C MANE Select	ENSP00000480279.1:n.*1656T>C
ENST00000614341.4:c.*1656T>C	ENSP00000480279.1:n.*1656T>C
NM_001282489.2:c.*1656T>C	NP_001269418.1:n.*1656T>C
NM_173477.4:c.*1656T>C	NP_775748.2:n.*1656T>C
XM_011524296.1:c.*1656T>C	XP_011522598.1:n.*1656T>C
XM_011524296.2:c.*1656T>C	XP_011522598.1:n.*1656T>C
NM_173477.5:c.*1656T>C MANE Select	NP_775748.2:n.*1656T>C
NM_001282489.3:c.*1656T>C	NP_001269418.1:n.*1656T>C