Canonical Allele Identifier: CA775051393

Gene: USH1G

Linked Data

• dbSNP Id: rs1211619860
• gnomAD v3: 17-74916350-C-G
• gnomAD v4: 17-74916350-C-G
• MyVariant Identifiers: chr17:g.72912442C>G (hg19) ; chr17:g.74916350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74916350C>G , CM000679.2:g.74916350C>G	GRCh38
NC_000017.10:g.72912442C>G , CM000679.1:g.72912442C>G	GRCh37
NC_000017.9:g.70424037C>G	NCBI36
NG_007882.1:g.11910G>C
NG_007882.2:g.11914G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.*1723G>C MANE Select	ENSP00000480279.1:n.*1723G>C
ENST00000614341.4:c.*1723G>C	ENSP00000480279.1:n.*1723G>C
NM_001282489.2:c.*1723G>C	NP_001269418.1:n.*1723G>C
NM_173477.4:c.*1723G>C	NP_775748.2:n.*1723G>C
XM_011524296.1:c.*1723G>C	XP_011522598.1:n.*1723G>C
XM_011524296.2:c.*1723G>C	XP_011522598.1:n.*1723G>C
NM_173477.5:c.*1723G>C MANE Select	NP_775748.2:n.*1723G>C
NM_001282489.3:c.*1723G>C	NP_001269418.1:n.*1723G>C