Canonical Allele Identifier: CA400961388

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915693A>G (hg19) ; chr17:g.74919598A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919598A>G , CM000679.2:g.74919598A>G	GRCh38
NC_000017.10:g.72915693A>G , CM000679.1:g.72915693A>G	GRCh37
NC_000017.9:g.70427288A>G	NCBI36
NG_007882.1:g.8659T>C
NG_033062.1:g.324A>G
NG_007882.2:g.8666T>C
NG_033062.2:g.324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1238T>C MANE Select	ENSP00000480279.1:p.Ile413Thr
ENST00000579243.1:c.*837T>C	ENSP00000462568.1:n.*837T>C
ENST00000614341.4:c.1238T>C	ENSP00000480279.1:p.Ile413Thr
NM_001282489.2:c.929T>C	NP_001269418.1:p.Ile310Thr
NM_173477.4:c.1238T>C	NP_775748.2:p.Ile413Thr
XM_011524296.1:c.929T>C	XP_011522598.1:p.Ile310Thr
XM_011524296.2:c.929T>C	XP_011522598.1:p.Ile310Thr
NM_173477.5:c.1238T>C MANE Select	NP_775748.2:p.Ile413Thr
NM_001282489.3:c.929T>C	NP_001269418.1:p.Ile310Thr