Canonical Allele Identifier: CA400961409

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915702T>A (hg19) ; chr17:g.74919607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919607T>A , CM000679.2:g.74919607T>A	GRCh38
NC_000017.10:g.72915702T>A , CM000679.1:g.72915702T>A	GRCh37
NC_000017.9:g.70427297T>A	NCBI36
NG_007882.1:g.8650A>T
NG_033062.1:g.333T>A
NG_007882.2:g.8657A>T
NG_033062.2:g.333T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1229A>T MANE Select	ENSP00000480279.1:p.Gln410Leu
ENST00000579243.1:c.*828A>T	ENSP00000462568.1:n.*828A>T
ENST00000614341.4:c.1229A>T	ENSP00000480279.1:p.Gln410Leu
NM_001282489.2:c.920A>T	NP_001269418.1:p.Gln307Leu
NM_173477.4:c.1229A>T	NP_775748.2:p.Gln410Leu
XM_011524296.1:c.920A>T	XP_011522598.1:p.Gln307Leu
XM_011524296.2:c.920A>T	XP_011522598.1:p.Gln307Leu
NM_173477.5:c.1229A>T MANE Select	NP_775748.2:p.Gln410Leu
NM_001282489.3:c.920A>T	NP_001269418.1:p.Gln307Leu