Canonical Allele Identifier: CA400964227

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916293T>G (hg19) ; chr17:g.74920198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920198T>G , CM000679.2:g.74920198T>G	GRCh38
NC_000017.10:g.72916293T>G , CM000679.1:g.72916293T>G	GRCh37
NC_000017.9:g.70427888T>G	NCBI36
NG_007882.1:g.8059A>C
NG_033062.1:g.924T>G
NG_007882.2:g.8066A>C
NG_033062.2:g.924T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.638A>C MANE Select	ENSP00000480279.1:p.Lys213Thr
ENST00000579243.1:c.*237A>C	ENSP00000462568.1:n.*237A>C
ENST00000614341.4:c.638A>C	ENSP00000480279.1:p.Lys213Thr
NM_001282489.2:c.329A>C	NP_001269418.1:p.Lys110Thr
NM_173477.4:c.638A>C	NP_775748.2:p.Lys213Thr
XM_011524296.1:c.329A>C	XP_011522598.1:p.Lys110Thr
XM_011524296.2:c.329A>C	XP_011522598.1:p.Lys110Thr
NM_173477.5:c.638A>C MANE Select	NP_775748.2:p.Lys213Thr
NM_001282489.3:c.329A>C	NP_001269418.1:p.Lys110Thr