Canonical Allele Identifier: CA400962013

Gene: USH1G

Linked Data

• dbSNP Id: rs1457319138
• gnomAD v2: 17-72915900-C-T
• gnomAD v4: 17-74919805-C-T
• MyVariant Identifiers: chr17:g.72915900C>T (hg19) ; chr17:g.74919805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919805C>T , CM000679.2:g.74919805C>T	GRCh38
NC_000017.10:g.72915900C>T , CM000679.1:g.72915900C>T	GRCh37
NC_000017.9:g.70427495C>T	NCBI36
NG_007882.1:g.8452G>A
NG_033062.1:g.531C>T
NG_007882.2:g.8459G>A
NG_033062.2:g.531C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.1031G>A MANE Select	ENSP00000480279.1:p.Gly344Asp
ENST00000579243.1:c.*630G>A	ENSP00000462568.1:n.*630G>A
ENST00000614341.4:c.1031G>A	ENSP00000480279.1:p.Gly344Asp
NM_001282489.2:c.722G>A	NP_001269418.1:p.Gly241Asp
NM_173477.4:c.1031G>A	NP_775748.2:p.Gly344Asp
XM_011524296.1:c.722G>A	XP_011522598.1:p.Gly241Asp
XM_011524296.2:c.722G>A	XP_011522598.1:p.Gly241Asp
NM_173477.5:c.1031G>A MANE Select	NP_775748.2:p.Gly344Asp
NM_001282489.3:c.722G>A	NP_001269418.1:p.Gly241Asp