Canonical Allele Identifier: CA8753913

Gene: USH1G

Linked Data

• dbSNP Id: rs750367080
• ExAC: 17:72915724 C / T
• gnomAD v2: 17-72915724-C-T
• MyVariant Identifiers: chr17:g.72915724C>T (hg19) ; chr17:g.74919629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919629C>T , CM000679.2:g.74919629C>T	GRCh38
NC_000017.10:g.72915724C>T , CM000679.1:g.72915724C>T	GRCh37
NC_000017.9:g.70427319C>T	NCBI36
NG_007882.1:g.8628G>A
NG_033062.1:g.355C>T
NG_007882.2:g.8635G>A
NG_033062.2:g.355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1207G>A MANE Select	ENSP00000480279.1:p.Asp403Asn
ENST00000579243.1:c.*806G>A	ENSP00000462568.1:n.*806G>A
ENST00000614341.4:c.1207G>A	ENSP00000480279.1:p.Asp403Asn
NM_001282489.2:c.898G>A	NP_001269418.1:p.Asp300Asn
NM_173477.4:c.1207G>A	NP_775748.2:p.Asp403Asn
XM_011524296.1:c.898G>A	XP_011522598.1:p.Asp300Asn
XM_011524296.2:c.898G>A	XP_011522598.1:p.Asp300Asn
NM_173477.5:c.1207G>A MANE Select	NP_775748.2:p.Asp403Asn
NM_001282489.3:c.898G>A	NP_001269418.1:p.Asp300Asn