Canonical Allele Identifier: CA400964355

Gene: USH1G

Linked Data

• ClinVar Variation Id: 2429315
• ClinVar RCV Id: RCV003123554
• MyVariant Identifiers: chr17:g.72916324G>A (hg19) ; chr17:g.74920229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920229G>A , CM000679.2:g.74920229G>A	GRCh38
NC_000017.10:g.72916324G>A , CM000679.1:g.72916324G>A	GRCh37
NC_000017.9:g.70427919G>A	NCBI36
NG_007882.1:g.8028C>T
NG_033062.1:g.955G>A
NG_007882.2:g.8035C>T
NG_033062.2:g.955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.607C>T MANE Select	ENSP00000480279.1:p.Gln203Ter
ENST00000579243.1:c.*206C>T	ENSP00000462568.1:n.*206C>T
ENST00000614341.4:c.607C>T	ENSP00000480279.1:p.Gln203Ter
NM_001282489.2:c.298C>T	NP_001269418.1:p.Gln100Ter
NM_173477.4:c.607C>T	NP_775748.2:p.Gln203Ter
XM_011524296.1:c.298C>T	XP_011522598.1:p.Gln100Ter
XM_011524296.2:c.298C>T	XP_011522598.1:p.Gln100Ter
NM_173477.5:c.607C>T MANE Select	NP_775748.2:p.Gln203Ter
NM_001282489.3:c.298C>T	NP_001269418.1:p.Gln100Ter