Canonical Allele Identifier: CA502036416

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1956558
• ClinVar RCV Id: RCV002700929
• dbSNP Id: rs2038918344
• MyVariant Identifiers: chr17:g.72916139G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920044G>A , CM000679.2:g.74920044G>A	GRCh38
NC_000017.10:g.72916139G>A , CM000679.1:g.72916139G>A	GRCh37
NC_000017.9:g.70427734G>A	NCBI36
NG_007882.1:g.8213C>T
NG_033062.1:g.770G>A
NG_007882.2:g.8220C>T
NG_033062.2:g.770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.792C>T MANE Select	ENSP00000480279.1:p.Pro264=
ENST00000579243.1:c.*391C>T	ENSP00000462568.1:n.*391C>T
ENST00000614341.4:c.792C>T	ENSP00000480279.1:p.Pro264=
NM_001282489.2:c.483C>T	NP_001269418.1:p.Pro161=
NM_173477.4:c.792C>T	NP_775748.2:p.Pro264=
XM_011524296.1:c.483C>T	XP_011522598.1:p.Pro161=
XM_011524296.2:c.483C>T	XP_011522598.1:p.Pro161=
NM_173477.5:c.792C>T MANE Select	NP_775748.2:p.Pro264=
NM_001282489.3:c.483C>T	NP_001269418.1:p.Pro161=