Canonical Allele Identifier: CA502036549

Gene: USH1G

Linked Data

• ClinVar Variation Id: 2036828
• ClinVar RCV Id: RCV002899437
• dbSNP Id: rs1258055997
• gnomAD v2: 17-72916202-C-A
• gnomAD v4: 17-74920107-C-A
• MyVariant Identifiers: chr17:g.72916202C>A (hg19) ; chr17:g.74920107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920107C>A , CM000679.2:g.74920107C>A	GRCh38
NC_000017.10:g.72916202C>A , CM000679.1:g.72916202C>A	GRCh37
NC_000017.9:g.70427797C>A	NCBI36
NG_007882.1:g.8150G>T
NG_033062.1:g.833C>A
NG_007882.2:g.8157G>T
NG_033062.2:g.833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.729G>T MANE Select	ENSP00000480279.1:p.Ser243=
ENST00000579243.1:c.*328G>T	ENSP00000462568.1:n.*328G>T
ENST00000614341.4:c.729G>T	ENSP00000480279.1:p.Ser243=
NM_001282489.2:c.420G>T	NP_001269418.1:p.Ser140=
NM_173477.4:c.729G>T	NP_775748.2:p.Ser243=
XM_011524296.1:c.420G>T	XP_011522598.1:p.Ser140=
XM_011524296.2:c.420G>T	XP_011522598.1:p.Ser140=
NM_173477.5:c.729G>T MANE Select	NP_775748.2:p.Ser243=
NM_001282489.3:c.420G>T	NP_001269418.1:p.Ser140=