Canonical Allele Identifier: CA293981949

Gene: USH1G

Linked Data

• dbSNP Id: rs546646559
• gnomAD v3: 17-74917499-G-C
• gnomAD v4: 17-74917499-G-C
• MyVariant Identifiers: chr17:g.72913593G>C (hg19) ; chr17:g.74917499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917499G>C , CM000679.2:g.74917499G>C	GRCh38
NC_000017.10:g.72913593G>C , CM000679.1:g.72913593G>C	GRCh37
NC_000017.9:g.70425188G>C	NCBI36
NG_007882.1:g.10759C>G
NG_007882.2:g.10765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*574C>G MANE Select	ENSP00000480279.1:n.*574C>G
ENST00000614341.4:c.*574C>G	ENSP00000480279.1:n.*574C>G
NM_001282489.2:c.*574C>G	NP_001269418.1:n.*574C>G
NM_173477.4:c.*574C>G	NP_775748.2:n.*574C>G
XM_011524296.1:c.*574C>G	XP_011522598.1:n.*574C>G
XM_011524296.2:c.*574C>G	XP_011522598.1:n.*574C>G
NM_173477.5:c.*574C>G MANE Select	NP_775748.2:n.*574C>G
NM_001282489.3:c.*574C>G	NP_001269418.1:n.*574C>G