Canonical Allele Identifier: CA400961408

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915701C>G (hg19) ; chr17:g.74919606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919606C>G , CM000679.2:g.74919606C>G	GRCh38
NC_000017.10:g.72915701C>G , CM000679.1:g.72915701C>G	GRCh37
NC_000017.9:g.70427296C>G	NCBI36
NG_007882.1:g.8651G>C
NG_033062.1:g.332C>G
NG_007882.2:g.8658G>C
NG_033062.2:g.332C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1230G>C MANE Select	ENSP00000480279.1:p.Gln410His
ENST00000579243.1:c.*829G>C	ENSP00000462568.1:n.*829G>C
ENST00000614341.4:c.1230G>C	ENSP00000480279.1:p.Gln410His
NM_001282489.2:c.921G>C	NP_001269418.1:p.Gln307His
NM_173477.4:c.1230G>C	NP_775748.2:p.Gln410His
XM_011524296.1:c.921G>C	XP_011522598.1:p.Gln307His
XM_011524296.2:c.921G>C	XP_011522598.1:p.Gln307His
NM_173477.5:c.1230G>C MANE Select	NP_775748.2:p.Gln410His
NM_001282489.3:c.921G>C	NP_001269418.1:p.Gln307His