Canonical Allele Identifier: CA400961400

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915698C>A (hg19) ; chr17:g.74919603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919603C>A , CM000679.2:g.74919603C>A	GRCh38
NC_000017.10:g.72915698C>A , CM000679.1:g.72915698C>A	GRCh37
NC_000017.9:g.70427293C>A	NCBI36
NG_007882.1:g.8654G>T
NG_033062.1:g.329C>A
NG_007882.2:g.8661G>T
NG_033062.2:g.329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1233G>T MANE Select	ENSP00000480279.1:p.Glu411Asp
ENST00000579243.1:c.*832G>T	ENSP00000462568.1:n.*832G>T
ENST00000614341.4:c.1233G>T	ENSP00000480279.1:p.Glu411Asp
NM_001282489.2:c.924G>T	NP_001269418.1:p.Glu308Asp
NM_173477.4:c.1233G>T	NP_775748.2:p.Glu411Asp
XM_011524296.1:c.924G>T	XP_011522598.1:p.Glu308Asp
XM_011524296.2:c.924G>T	XP_011522598.1:p.Glu308Asp
NM_173477.5:c.1233G>T MANE Select	NP_775748.2:p.Glu411Asp
NM_001282489.3:c.924G>T	NP_001269418.1:p.Glu308Asp