Canonical Allele Identifier: CA8753892

Gene: USH1G

Linked Data

• dbSNP Id: rs777486419
• ExAC: 17:72915634 G / A
• gnomAD v2: 17-72915634-G-A
• gnomAD v4: 17-74919539-G-A
• MyVariant Identifiers: chr17:g.72915634G>A (hg19) ; chr17:g.74919539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919539G>A , CM000679.2:g.74919539G>A	GRCh38
NC_000017.10:g.72915634G>A , CM000679.1:g.72915634G>A	GRCh37
NC_000017.9:g.70427229G>A	NCBI36
NG_007882.1:g.8718C>T
NG_033062.1:g.265G>A
NG_007882.2:g.8725C>T
NG_033062.2:g.265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1297C>T MANE Select	ENSP00000480279.1:p.Leu433=
ENST00000579243.1:c.*896C>T	ENSP00000462568.1:n.*896C>T
ENST00000614341.4:c.1297C>T	ENSP00000480279.1:p.Leu433=
NM_001282489.2:c.988C>T	NP_001269418.1:p.Leu330=
NM_173477.4:c.1297C>T	NP_775748.2:p.Leu433=
XM_011524296.1:c.988C>T	XP_011522598.1:p.Leu330=
XM_011524296.2:c.988C>T	XP_011522598.1:p.Leu330=
NM_173477.5:c.1297C>T MANE Select	NP_775748.2:p.Leu433=
NM_001282489.3:c.988C>T	NP_001269418.1:p.Leu330=