Canonical Allele Identifier: CA400964397

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916335A>T (hg19) ; chr17:g.74920240A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920240A>T , CM000679.2:g.74920240A>T	GRCh38
NC_000017.10:g.72916335A>T , CM000679.1:g.72916335A>T	GRCh37
NC_000017.9:g.70427930A>T	NCBI36
NG_007882.1:g.8017T>A
NG_033062.1:g.966A>T
NG_007882.2:g.8024T>A
NG_033062.2:g.966A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.596T>A MANE Select	ENSP00000480279.1:p.Leu199Gln
ENST00000579243.1:c.*195T>A	ENSP00000462568.1:n.*195T>A
ENST00000614341.4:c.596T>A	ENSP00000480279.1:p.Leu199Gln
NM_001282489.2:c.287T>A	NP_001269418.1:p.Leu96Gln
NM_173477.4:c.596T>A	NP_775748.2:p.Leu199Gln
XM_011524296.1:c.287T>A	XP_011522598.1:p.Leu96Gln
XM_011524296.2:c.287T>A	XP_011522598.1:p.Leu96Gln
NM_173477.5:c.596T>A MANE Select	NP_775748.2:p.Leu199Gln
NM_001282489.3:c.287T>A	NP_001269418.1:p.Leu96Gln