Canonical Allele Identifier: CA400964208

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916291T>A (hg19) ; chr17:g.74920196T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920196T>A , CM000679.2:g.74920196T>A	GRCh38
NC_000017.10:g.72916291T>A , CM000679.1:g.72916291T>A	GRCh37
NC_000017.9:g.70427886T>A	NCBI36
NG_007882.1:g.8061A>T
NG_033062.1:g.922T>A
NG_007882.2:g.8068A>T
NG_033062.2:g.922T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.640A>T MANE Select	ENSP00000480279.1:p.Thr214Ser
ENST00000579243.1:c.*239A>T	ENSP00000462568.1:n.*239A>T
ENST00000614341.4:c.640A>T	ENSP00000480279.1:p.Thr214Ser
NM_001282489.2:c.331A>T	NP_001269418.1:p.Thr111Ser
NM_173477.4:c.640A>T	NP_775748.2:p.Thr214Ser
XM_011524296.1:c.331A>T	XP_011522598.1:p.Thr111Ser
XM_011524296.2:c.331A>T	XP_011522598.1:p.Thr111Ser
NM_173477.5:c.640A>T MANE Select	NP_775748.2:p.Thr214Ser
NM_001282489.3:c.331A>T	NP_001269418.1:p.Thr111Ser