Canonical Allele Identifier: CA502036790

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1668779
• ClinVar RCV Id: RCV002194209
• dbSNP Id: rs2144753489
• MyVariant Identifiers: chr17:g.72916052G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919957G>A , CM000679.2:g.74919957G>A	GRCh38
NC_000017.10:g.72916052G>A , CM000679.1:g.72916052G>A	GRCh37
NC_000017.9:g.70427647G>A	NCBI36
NG_007882.1:g.8300C>T
NG_033062.1:g.683G>A
NG_007882.2:g.8307C>T
NG_033062.2:g.683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.879C>T MANE Select	ENSP00000480279.1:p.Ala293=
ENST00000579243.1:c.*478C>T	ENSP00000462568.1:n.*478C>T
ENST00000614341.4:c.879C>T	ENSP00000480279.1:p.Ala293=
NM_001282489.2:c.570C>T	NP_001269418.1:p.Ala190=
NM_173477.4:c.879C>T	NP_775748.2:p.Ala293=
XM_011524296.1:c.570C>T	XP_011522598.1:p.Ala190=
XM_011524296.2:c.570C>T	XP_011522598.1:p.Ala190=
NM_173477.5:c.879C>T MANE Select	NP_775748.2:p.Ala293=
NM_001282489.3:c.570C>T	NP_001269418.1:p.Ala190=