Canonical Allele Identifier: CA502036694

Gene: USH1G

Linked Data

• dbSNP Id: rs2038915750
• gnomAD v3: 17-74919912-G-A
• gnomAD v4: 17-74919912-G-A
• COSMIC: COSM4513042
• MyVariant Identifiers: chr17:g.72916007G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919912G>A , CM000679.2:g.74919912G>A	GRCh38
NC_000017.10:g.72916007G>A , CM000679.1:g.72916007G>A	GRCh37
NC_000017.9:g.70427602G>A	NCBI36
NG_007882.1:g.8345C>T
NG_033062.1:g.638G>A
NG_007882.2:g.8352C>T
NG_033062.2:g.638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.924C>T MANE Select	ENSP00000480279.1:p.Thr308=
ENST00000579243.1:c.*523C>T	ENSP00000462568.1:n.*523C>T
ENST00000614341.4:c.924C>T	ENSP00000480279.1:p.Thr308=
NM_001282489.2:c.615C>T	NP_001269418.1:p.Thr205=
NM_173477.4:c.924C>T	NP_775748.2:p.Thr308=
XM_011524296.1:c.615C>T	XP_011522598.1:p.Thr205=
XM_011524296.2:c.615C>T	XP_011522598.1:p.Thr205=
NM_173477.5:c.924C>T MANE Select	NP_775748.2:p.Thr308=
NM_001282489.3:c.615C>T	NP_001269418.1:p.Thr205=