Canonical Allele Identifier: CA8754035

Gene: USH1G

Linked Data

• dbSNP Id: rs756830882
• ExAC: 17:72916313 C / T
• gnomAD v2: 17-72916313-C-T
• gnomAD v4: 17-74920218-C-T
• MyVariant Identifiers: chr17:g.72916313C>T (hg19) ; chr17:g.74920218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920218C>T , CM000679.2:g.74920218C>T	GRCh38
NC_000017.10:g.72916313C>T , CM000679.1:g.72916313C>T	GRCh37
NC_000017.9:g.70427908C>T	NCBI36
NG_007882.1:g.8039G>A
NG_033062.1:g.944C>T
NG_007882.2:g.8046G>A
NG_033062.2:g.944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.618G>A MANE Select	ENSP00000480279.1:p.Leu206=
ENST00000579243.1:c.*217G>A	ENSP00000462568.1:n.*217G>A
ENST00000614341.4:c.618G>A	ENSP00000480279.1:p.Leu206=
NM_001282489.2:c.309G>A	NP_001269418.1:p.Leu103=
NM_173477.4:c.618G>A	NP_775748.2:p.Leu206=
XM_011524296.1:c.309G>A	XP_011522598.1:p.Leu103=
XM_011524296.2:c.309G>A	XP_011522598.1:p.Leu103=
NM_173477.5:c.618G>A MANE Select	NP_775748.2:p.Leu206=
NM_001282489.3:c.309G>A	NP_001269418.1:p.Leu103=