Canonical Allele Identifier: CA293981095

Gene: USH1G

Linked Data

• dbSNP Id: rs1043386378
• gnomAD v3: 17-74916254-T-C
• gnomAD v4: 17-74916254-T-C
• MyVariant Identifiers: chr17:g.72912346T>C (hg19) ; chr17:g.74916254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74916254T>C , CM000679.2:g.74916254T>C	GRCh38
NC_000017.10:g.72912346T>C , CM000679.1:g.72912346T>C	GRCh37
NC_000017.9:g.70423941T>C	NCBI36
NG_007882.1:g.12006A>G
NG_007882.2:g.12010A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.*1819A>G MANE Select	ENSP00000480279.1:n.*1819A>G
ENST00000614341.4:c.*1819A>G	ENSP00000480279.1:n.*1819A>G
NM_001282489.2:c.*1819A>G	NP_001269418.1:n.*1819A>G
NM_173477.4:c.*1819A>G	NP_775748.2:n.*1819A>G
XM_011524296.1:c.*1819A>G	XP_011522598.1:n.*1819A>G
XM_011524296.2:c.*1819A>G	XP_011522598.1:n.*1819A>G
NM_173477.5:c.*1819A>G MANE Select	NP_775748.2:n.*1819A>G
NM_001282489.3:c.*1819A>G	NP_001269418.1:n.*1819A>G