Canonical Allele Identifier: CA502036672

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1637800
• ClinVar RCV Id: RCV002133624
• dbSNP Id: rs2144753291
• gnomAD v4: 17-74919903-G-T
• MyVariant Identifiers: chr17:g.72915998G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919903G>T , CM000679.2:g.74919903G>T	GRCh38
NC_000017.10:g.72915998G>T , CM000679.1:g.72915998G>T	GRCh37
NC_000017.9:g.70427593G>T	NCBI36
NG_007882.1:g.8354C>A
NG_033062.1:g.629G>T
NG_007882.2:g.8361C>A
NG_033062.2:g.629G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.933C>A MANE Select	ENSP00000480279.1:p.Gly311=
ENST00000579243.1:c.*532C>A	ENSP00000462568.1:n.*532C>A
ENST00000614341.4:c.933C>A	ENSP00000480279.1:p.Gly311=
NM_001282489.2:c.624C>A	NP_001269418.1:p.Gly208=
NM_173477.4:c.933C>A	NP_775748.2:p.Gly311=
XM_011524296.1:c.624C>A	XP_011522598.1:p.Gly208=
XM_011524296.2:c.624C>A	XP_011522598.1:p.Gly208=
NM_173477.5:c.933C>A MANE Select	NP_775748.2:p.Gly311=
NM_001282489.3:c.624C>A	NP_001269418.1:p.Gly208=