Canonical Allele Identifier: CA400961578

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919689-C-T
• MyVariant Identifiers: chr17:g.72915784C>T (hg19) ; chr17:g.74919689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919689C>T , CM000679.2:g.74919689C>T	GRCh38
NC_000017.10:g.72915784C>T , CM000679.1:g.72915784C>T	GRCh37
NC_000017.9:g.70427379C>T	NCBI36
NG_007882.1:g.8568G>A
NG_033062.1:g.415C>T
NG_007882.2:g.8575G>A
NG_033062.2:g.415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1147G>A MANE Select	ENSP00000480279.1:p.Glu383Lys
ENST00000579243.1:c.*746G>A	ENSP00000462568.1:n.*746G>A
ENST00000614341.4:c.1147G>A	ENSP00000480279.1:p.Glu383Lys
NM_001282489.2:c.838G>A	NP_001269418.1:p.Glu280Lys
NM_173477.4:c.1147G>A	NP_775748.2:p.Glu383Lys
XM_011524296.1:c.838G>A	XP_011522598.1:p.Glu280Lys
XM_011524296.2:c.838G>A	XP_011522598.1:p.Glu280Lys
NM_173477.5:c.1147G>A MANE Select	NP_775748.2:p.Glu383Lys
NM_001282489.3:c.838G>A	NP_001269418.1:p.Glu280Lys