Canonical Allele Identifier: CA400964342

Gene: USH1G

Linked Data

• dbSNP Id: rs1351914348
• gnomAD v2: 17-72916321-C-T
• gnomAD v4: 17-74920226-C-T
• MyVariant Identifiers: chr17:g.72916321C>T (hg19) ; chr17:g.74920226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920226C>T , CM000679.2:g.74920226C>T	GRCh38
NC_000017.10:g.72916321C>T , CM000679.1:g.72916321C>T	GRCh37
NC_000017.9:g.70427916C>T	NCBI36
NG_007882.1:g.8031G>A
NG_033062.1:g.952C>T
NG_007882.2:g.8038G>A
NG_033062.2:g.952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.610G>A MANE Select	ENSP00000480279.1:p.Ala204Thr
ENST00000579243.1:c.*209G>A	ENSP00000462568.1:n.*209G>A
ENST00000614341.4:c.610G>A	ENSP00000480279.1:p.Ala204Thr
NM_001282489.2:c.301G>A	NP_001269418.1:p.Ala101Thr
NM_173477.4:c.610G>A	NP_775748.2:p.Ala204Thr
XM_011524296.1:c.301G>A	XP_011522598.1:p.Ala101Thr
XM_011524296.2:c.301G>A	XP_011522598.1:p.Ala101Thr
NM_173477.5:c.610G>A MANE Select	NP_775748.2:p.Ala204Thr
NM_001282489.3:c.301G>A	NP_001269418.1:p.Ala101Thr