Canonical Allele Identifier: CA502036432

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915881G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919786G>C , CM000679.2:g.74919786G>C	GRCh38
NC_000017.10:g.72915881G>C , CM000679.1:g.72915881G>C	GRCh37
NC_000017.9:g.70427476G>C	NCBI36
NG_007882.1:g.8471C>G
NG_033062.1:g.512G>C
NG_007882.2:g.8478C>G
NG_033062.2:g.512G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1050C>G MANE Select	ENSP00000480279.1:p.Pro350=
ENST00000579243.1:c.*649C>G	ENSP00000462568.1:n.*649C>G
ENST00000614341.4:c.1050C>G	ENSP00000480279.1:p.Pro350=
NM_001282489.2:c.741C>G	NP_001269418.1:p.Pro247=
NM_173477.4:c.1050C>G	NP_775748.2:p.Pro350=
XM_011524296.1:c.741C>G	XP_011522598.1:p.Pro247=
XM_011524296.2:c.741C>G	XP_011522598.1:p.Pro247=
NM_173477.5:c.1050C>G MANE Select	NP_775748.2:p.Pro350=
NM_001282489.3:c.741C>G	NP_001269418.1:p.Pro247=