Canonical Allele Identifier: CA400967983

Gene: USH1G

Linked Data

• dbSNP Id: rs1196613734
• gnomAD v2: 17-72919041-C-T
• gnomAD v4: 17-74922946-C-T
• MyVariant Identifiers: chr17:g.72919041C>T (hg19) ; chr17:g.74922946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922946C>T , CM000679.2:g.74922946C>T	GRCh38
NC_000017.10:g.72919041C>T , CM000679.1:g.72919041C>T	GRCh37
NC_000017.9:g.70430636C>T	NCBI36
NG_007882.1:g.5311G>A
NG_033062.1:g.3672C>T
NG_007882.2:g.5318G>A
NG_033062.2:g.3672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.128G>A MANE Select	ENSP00000480279.1:p.Gly43Asp
ENST00000579243.1:c.128G>A	ENSP00000462568.1:p.Gly43Asp
ENST00000614341.4:c.128G>A	ENSP00000480279.1:p.Gly43Asp
NM_001282489.2:c.-129G>A	NP_001269418.1:n.-129G>A
NM_173477.4:c.128G>A	NP_775748.2:p.Gly43Asp
NM_173477.5:c.128G>A MANE Select	NP_775748.2:p.Gly43Asp
NM_001282489.3:c.-129G>A	NP_001269418.1:n.-129G>A