Canonical Allele Identifier: CA8754007

Gene: USH1G

Linked Data

• dbSNP Id: rs746860881
• ExAC: 17:72916174 C / A
• gnomAD v2: 17-72916174-C-A
• gnomAD v4: 17-74920079-C-A
• MyVariant Identifiers: chr17:g.72916174C>A (hg19) ; chr17:g.74920079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920079C>A , CM000679.2:g.74920079C>A	GRCh38
NC_000017.10:g.72916174C>A , CM000679.1:g.72916174C>A	GRCh37
NC_000017.9:g.70427769C>A	NCBI36
NG_007882.1:g.8178G>T
NG_033062.1:g.805C>A
NG_007882.2:g.8185G>T
NG_033062.2:g.805C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.757G>T MANE Select	ENSP00000480279.1:p.Val253Leu
ENST00000579243.1:c.*356G>T	ENSP00000462568.1:n.*356G>T
ENST00000614341.4:c.757G>T	ENSP00000480279.1:p.Val253Leu
NM_001282489.2:c.448G>T	NP_001269418.1:p.Val150Leu
NM_173477.4:c.757G>T	NP_775748.2:p.Val253Leu
XM_011524296.1:c.448G>T	XP_011522598.1:p.Val150Leu
XM_011524296.2:c.448G>T	XP_011522598.1:p.Val150Leu
NM_173477.5:c.757G>T MANE Select	NP_775748.2:p.Val253Leu
NM_001282489.3:c.448G>T	NP_001269418.1:p.Val150Leu