Canonical Allele Identifier: CA502036734

Gene: USH1G

Linked Data

• dbSNP Id: rs2144752536
• MyVariant Identifiers: chr17:g.72915797A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919702A>G , CM000679.2:g.74919702A>G	GRCh38
NC_000017.10:g.72915797A>G , CM000679.1:g.72915797A>G	GRCh37
NC_000017.9:g.70427392A>G	NCBI36
NG_007882.1:g.8555T>C
NG_033062.1:g.428A>G
NG_007882.2:g.8562T>C
NG_033062.2:g.428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1134T>C MANE Select	ENSP00000480279.1:p.Asp378=
ENST00000579243.1:c.*733T>C	ENSP00000462568.1:n.*733T>C
ENST00000614341.4:c.1134T>C	ENSP00000480279.1:p.Asp378=
NM_001282489.2:c.825T>C	NP_001269418.1:p.Asp275=
NM_173477.4:c.1134T>C	NP_775748.2:p.Asp378=
XM_011524296.1:c.825T>C	XP_011522598.1:p.Asp275=
XM_011524296.2:c.825T>C	XP_011522598.1:p.Asp275=
NM_173477.5:c.1134T>C MANE Select	NP_775748.2:p.Asp378=
NM_001282489.3:c.825T>C	NP_001269418.1:p.Asp275=