Canonical Allele Identifier: CA502036731

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915796A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919701A>G , CM000679.2:g.74919701A>G	GRCh38
NC_000017.10:g.72915796A>G , CM000679.1:g.72915796A>G	GRCh37
NC_000017.9:g.70427391A>G	NCBI36
NG_007882.1:g.8556T>C
NG_033062.1:g.427A>G
NG_007882.2:g.8563T>C
NG_033062.2:g.427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1135T>C MANE Select	ENSP00000480279.1:p.Leu379=
ENST00000579243.1:c.*734T>C	ENSP00000462568.1:n.*734T>C
ENST00000614341.4:c.1135T>C	ENSP00000480279.1:p.Leu379=
NM_001282489.2:c.826T>C	NP_001269418.1:p.Leu276=
NM_173477.4:c.1135T>C	NP_775748.2:p.Leu379=
XM_011524296.1:c.826T>C	XP_011522598.1:p.Leu276=
XM_011524296.2:c.826T>C	XP_011522598.1:p.Leu276=
NM_173477.5:c.1135T>C MANE Select	NP_775748.2:p.Leu379=
NM_001282489.3:c.826T>C	NP_001269418.1:p.Leu276=