Canonical Allele Identifier: CA400964299

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916311T>A (hg19) ; chr17:g.74920216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920216T>A , CM000679.2:g.74920216T>A	GRCh38
NC_000017.10:g.72916311T>A , CM000679.1:g.72916311T>A	GRCh37
NC_000017.9:g.70427906T>A	NCBI36
NG_007882.1:g.8041A>T
NG_033062.1:g.942T>A
NG_007882.2:g.8048A>T
NG_033062.2:g.942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.620A>T MANE Select	ENSP00000480279.1:p.His207Leu
ENST00000579243.1:c.*219A>T	ENSP00000462568.1:n.*219A>T
ENST00000614341.4:c.620A>T	ENSP00000480279.1:p.His207Leu
NM_001282489.2:c.311A>T	NP_001269418.1:p.His104Leu
NM_173477.4:c.620A>T	NP_775748.2:p.His207Leu
XM_011524296.1:c.311A>T	XP_011522598.1:p.His104Leu
XM_011524296.2:c.311A>T	XP_011522598.1:p.His104Leu
NM_173477.5:c.620A>T MANE Select	NP_775748.2:p.His207Leu
NM_001282489.3:c.311A>T	NP_001269418.1:p.His104Leu