Canonical Allele Identifier: CA502036627

Gene: USH1G

Linked Data

• dbSNP Id: rs1283382198
• gnomAD v2: 17-72916241-G-A
• gnomAD v4: 17-74920146-G-A
• MyVariant Identifiers: chr17:g.72916241G>A (hg19) ; chr17:g.74920146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920146G>A , CM000679.2:g.74920146G>A	GRCh38
NC_000017.10:g.72916241G>A , CM000679.1:g.72916241G>A	GRCh37
NC_000017.9:g.70427836G>A	NCBI36
NG_007882.1:g.8111C>T
NG_033062.1:g.872G>A
NG_007882.2:g.8118C>T
NG_033062.2:g.872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.690C>T MANE Select	ENSP00000480279.1:p.Thr230=
ENST00000579243.1:c.*289C>T	ENSP00000462568.1:n.*289C>T
ENST00000614341.4:c.690C>T	ENSP00000480279.1:p.Thr230=
NM_001282489.2:c.381C>T	NP_001269418.1:p.Thr127=
NM_173477.4:c.690C>T	NP_775748.2:p.Thr230=
XM_011524296.1:c.381C>T	XP_011522598.1:p.Thr127=
XM_011524296.2:c.381C>T	XP_011522598.1:p.Thr127=
NM_173477.5:c.690C>T MANE Select	NP_775748.2:p.Thr230=
NM_001282489.3:c.381C>T	NP_001269418.1:p.Thr127=