Canonical Allele Identifier: CA293981927

Gene: USH1G

Linked Data

• dbSNP Id: rs976969968
• gnomAD v3: 17-74917442-C-T
• gnomAD v4: 17-74917442-C-T
• MyVariant Identifiers: chr17:g.72913536C>T (hg19) ; chr17:g.74917442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917442C>T , CM000679.2:g.74917442C>T	GRCh38
NC_000017.10:g.72913536C>T , CM000679.1:g.72913536C>T	GRCh37
NC_000017.9:g.70425131C>T	NCBI36
NG_007882.1:g.10816G>A
NG_007882.2:g.10822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*631G>A MANE Select	ENSP00000480279.1:n.*631G>A
ENST00000614341.4:c.*631G>A	ENSP00000480279.1:n.*631G>A
NM_001282489.2:c.*631G>A	NP_001269418.1:n.*631G>A
NM_173477.4:c.*631G>A	NP_775748.2:n.*631G>A
XM_011524296.1:c.*631G>A	XP_011522598.1:n.*631G>A
XM_011524296.2:c.*631G>A	XP_011522598.1:n.*631G>A
NM_173477.5:c.*631G>A MANE Select	NP_775748.2:n.*631G>A
NM_001282489.3:c.*631G>A	NP_001269418.1:n.*631G>A