Canonical Allele Identifier: CA400964191

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916288T>G (hg19) ; chr17:g.74920193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920193T>G , CM000679.2:g.74920193T>G	GRCh38
NC_000017.10:g.72916288T>G , CM000679.1:g.72916288T>G	GRCh37
NC_000017.9:g.70427883T>G	NCBI36
NG_007882.1:g.8064A>C
NG_033062.1:g.919T>G
NG_007882.2:g.8071A>C
NG_033062.2:g.919T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.643A>C MANE Select	ENSP00000480279.1:p.Lys215Gln
ENST00000579243.1:c.*242A>C	ENSP00000462568.1:n.*242A>C
ENST00000614341.4:c.643A>C	ENSP00000480279.1:p.Lys215Gln
NM_001282489.2:c.334A>C	NP_001269418.1:p.Lys112Gln
NM_173477.4:c.643A>C	NP_775748.2:p.Lys215Gln
XM_011524296.1:c.334A>C	XP_011522598.1:p.Lys112Gln
XM_011524296.2:c.334A>C	XP_011522598.1:p.Lys112Gln
NM_173477.5:c.643A>C MANE Select	NP_775748.2:p.Lys215Gln
NM_001282489.3:c.334A>C	NP_001269418.1:p.Lys112Gln