Canonical Allele Identifier: CA400963716

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916216T>C (hg19) ; chr17:g.74920121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920121T>C , CM000679.2:g.74920121T>C	GRCh38
NC_000017.10:g.72916216T>C , CM000679.1:g.72916216T>C	GRCh37
NC_000017.9:g.70427811T>C	NCBI36
NG_007882.1:g.8136A>G
NG_033062.1:g.847T>C
NG_007882.2:g.8143A>G
NG_033062.2:g.847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.715A>G MANE Select	ENSP00000480279.1:p.Lys239Glu
ENST00000579243.1:c.*314A>G	ENSP00000462568.1:n.*314A>G
ENST00000614341.4:c.715A>G	ENSP00000480279.1:p.Lys239Glu
NM_001282489.2:c.406A>G	NP_001269418.1:p.Lys136Glu
NM_173477.4:c.715A>G	NP_775748.2:p.Lys239Glu
XM_011524296.1:c.406A>G	XP_011522598.1:p.Lys136Glu
XM_011524296.2:c.406A>G	XP_011522598.1:p.Lys136Glu
NM_173477.5:c.715A>G MANE Select	NP_775748.2:p.Lys239Glu
NM_001282489.3:c.406A>G	NP_001269418.1:p.Lys136Glu