Canonical Allele Identifier: CA502036710

Gene: USH1G

Linked Data

• dbSNP Id: rs2038910291
• gnomAD v3: 17-74919693-C-T
• gnomAD v4: 17-74919693-C-T
• MyVariant Identifiers: chr17:g.72915788C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919693C>T , CM000679.2:g.74919693C>T	GRCh38
NC_000017.10:g.72915788C>T , CM000679.1:g.72915788C>T	GRCh37
NC_000017.9:g.70427383C>T	NCBI36
NG_007882.1:g.8564G>A
NG_033062.1:g.419C>T
NG_007882.2:g.8571G>A
NG_033062.2:g.419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1143G>A MANE Select	ENSP00000480279.1:p.Leu381=
ENST00000579243.1:c.*742G>A	ENSP00000462568.1:n.*742G>A
ENST00000614341.4:c.1143G>A	ENSP00000480279.1:p.Leu381=
NM_001282489.2:c.834G>A	NP_001269418.1:p.Leu278=
NM_173477.4:c.1143G>A	NP_775748.2:p.Leu381=
XM_011524296.1:c.834G>A	XP_011522598.1:p.Leu278=
XM_011524296.2:c.834G>A	XP_011522598.1:p.Leu278=
NM_173477.5:c.1143G>A MANE Select	NP_775748.2:p.Leu381=
NM_001282489.3:c.834G>A	NP_001269418.1:p.Leu278=