Canonical Allele Identifier: CA8753930

Gene: USH1G

Linked Data

• dbSNP Id: rs758319467
• ExAC: 17:72915799 C / G
• gnomAD v2: 17-72915799-C-G
• gnomAD v4: 17-74919704-C-G
• MyVariant Identifiers: chr17:g.72915799C>G (hg19) ; chr17:g.74919704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919704C>G , CM000679.2:g.74919704C>G	GRCh38
NC_000017.10:g.72915799C>G , CM000679.1:g.72915799C>G	GRCh37
NC_000017.9:g.70427394C>G	NCBI36
NG_007882.1:g.8553G>C
NG_033062.1:g.430C>G
NG_007882.2:g.8560G>C
NG_033062.2:g.430C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1132G>C MANE Select	ENSP00000480279.1:p.Asp378His
ENST00000579243.1:c.*731G>C	ENSP00000462568.1:n.*731G>C
ENST00000614341.4:c.1132G>C	ENSP00000480279.1:p.Asp378His
NM_001282489.2:c.823G>C	NP_001269418.1:p.Asp275His
NM_173477.4:c.1132G>C	NP_775748.2:p.Asp378His
XM_011524296.1:c.823G>C	XP_011522598.1:p.Asp275His
XM_011524296.2:c.823G>C	XP_011522598.1:p.Asp275His
NM_173477.5:c.1132G>C MANE Select	NP_775748.2:p.Asp378His
NM_001282489.3:c.823G>C	NP_001269418.1:p.Asp275His