Canonical Allele Identifier: CA8753900

Gene: USH1G

Linked Data

• dbSNP Id: rs374693956
• ExAC: 17:72915672 A / G
• gnomAD v2: 17-72915672-A-G
• gnomAD v3: 17-74919577-A-G
• gnomAD v4: 17-74919577-A-G
• MyVariant Identifiers: chr17:g.72915672A>G (hg19) ; chr17:g.74919577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919577A>G , CM000679.2:g.74919577A>G	GRCh38
NC_000017.10:g.72915672A>G , CM000679.1:g.72915672A>G	GRCh37
NC_000017.9:g.70427267A>G	NCBI36
NG_007882.1:g.8680T>C
NG_033062.1:g.303A>G
NG_007882.2:g.8687T>C
NG_033062.2:g.303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1259T>C MANE Select	ENSP00000480279.1:p.Leu420Pro
ENST00000579243.1:c.*858T>C	ENSP00000462568.1:n.*858T>C
ENST00000614341.4:c.1259T>C	ENSP00000480279.1:p.Leu420Pro
NM_001282489.2:c.950T>C	NP_001269418.1:p.Leu317Pro
NM_173477.4:c.1259T>C	NP_775748.2:p.Leu420Pro
XM_011524296.1:c.950T>C	XP_011522598.1:p.Leu317Pro
XM_011524296.2:c.950T>C	XP_011522598.1:p.Leu317Pro
NM_173477.5:c.1259T>C MANE Select	NP_775748.2:p.Leu420Pro
NM_001282489.3:c.950T>C	NP_001269418.1:p.Leu317Pro