Canonical Allele Identifier: CA502036515

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916187C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920092C>T , CM000679.2:g.74920092C>T	GRCh38
NC_000017.10:g.72916187C>T , CM000679.1:g.72916187C>T	GRCh37
NC_000017.9:g.70427782C>T	NCBI36
NG_007882.1:g.8165G>A
NG_033062.1:g.818C>T
NG_007882.2:g.8172G>A
NG_033062.2:g.818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.744G>A MANE Select	ENSP00000480279.1:p.Gln248=
ENST00000579243.1:c.*343G>A	ENSP00000462568.1:n.*343G>A
ENST00000614341.4:c.744G>A	ENSP00000480279.1:p.Gln248=
NM_001282489.2:c.435G>A	NP_001269418.1:p.Gln145=
NM_173477.4:c.744G>A	NP_775748.2:p.Gln248=
XM_011524296.1:c.435G>A	XP_011522598.1:p.Gln145=
XM_011524296.2:c.435G>A	XP_011522598.1:p.Gln145=
NM_173477.5:c.744G>A MANE Select	NP_775748.2:p.Gln248=
NM_001282489.3:c.435G>A	NP_001269418.1:p.Gln145=