Canonical Allele Identifier: CA400962242

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915963C>A (hg19) ; chr17:g.74919868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919868C>A , CM000679.2:g.74919868C>A	GRCh38
NC_000017.10:g.72915963C>A , CM000679.1:g.72915963C>A	GRCh37
NC_000017.9:g.70427558C>A	NCBI36
NG_007882.1:g.8389G>T
NG_033062.1:g.594C>A
NG_007882.2:g.8396G>T
NG_033062.2:g.594C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.968G>T MANE Select	ENSP00000480279.1:p.Ser323Ile
ENST00000579243.1:c.*567G>T	ENSP00000462568.1:n.*567G>T
ENST00000614341.4:c.968G>T	ENSP00000480279.1:p.Ser323Ile
NM_001282489.2:c.659G>T	NP_001269418.1:p.Ser220Ile
NM_173477.4:c.968G>T	NP_775748.2:p.Ser323Ile
XM_011524296.1:c.659G>T	XP_011522598.1:p.Ser220Ile
XM_011524296.2:c.659G>T	XP_011522598.1:p.Ser220Ile
NM_173477.5:c.968G>T MANE Select	NP_775748.2:p.Ser323Ile
NM_001282489.3:c.659G>T	NP_001269418.1:p.Ser220Ile