Canonical Allele Identifier: CA400961766

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915839C>A (hg19) ; chr17:g.74919744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919744C>A , CM000679.2:g.74919744C>A	GRCh38
NC_000017.10:g.72915839C>A , CM000679.1:g.72915839C>A	GRCh37
NC_000017.9:g.70427434C>A	NCBI36
NG_007882.1:g.8513G>T
NG_033062.1:g.470C>A
NG_007882.2:g.8520G>T
NG_033062.2:g.470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1092G>T MANE Select	ENSP00000480279.1:p.Gln364His
ENST00000579243.1:c.*691G>T	ENSP00000462568.1:n.*691G>T
ENST00000614341.4:c.1092G>T	ENSP00000480279.1:p.Gln364His
NM_001282489.2:c.783G>T	NP_001269418.1:p.Gln261His
NM_173477.4:c.1092G>T	NP_775748.2:p.Gln364His
XM_011524296.1:c.783G>T	XP_011522598.1:p.Gln261His
XM_011524296.2:c.783G>T	XP_011522598.1:p.Gln261His
NM_173477.5:c.1092G>T MANE Select	NP_775748.2:p.Gln364His
NM_001282489.3:c.783G>T	NP_001269418.1:p.Gln261His