Canonical Allele Identifier: CA400962362

Gene: USH1G

Linked Data

• dbSNP Id: rs1486701635
• gnomAD v2: 17-72915982-A-G
• gnomAD v4: 17-74919887-A-G
• MyVariant Identifiers: chr17:g.72915982A>G (hg19) ; chr17:g.74919887A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919887A>G , CM000679.2:g.74919887A>G	GRCh38
NC_000017.10:g.72915982A>G , CM000679.1:g.72915982A>G	GRCh37
NC_000017.9:g.70427577A>G	NCBI36
NG_007882.1:g.8370T>C
NG_033062.1:g.613A>G
NG_007882.2:g.8377T>C
NG_033062.2:g.613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.949T>C MANE Select	ENSP00000480279.1:p.Phe317Leu
ENST00000579243.1:c.*548T>C	ENSP00000462568.1:n.*548T>C
ENST00000614341.4:c.949T>C	ENSP00000480279.1:p.Phe317Leu
NM_001282489.2:c.640T>C	NP_001269418.1:p.Phe214Leu
NM_173477.4:c.949T>C	NP_775748.2:p.Phe317Leu
XM_011524296.1:c.640T>C	XP_011522598.1:p.Phe214Leu
XM_011524296.2:c.640T>C	XP_011522598.1:p.Phe214Leu
NM_173477.5:c.949T>C MANE Select	NP_775748.2:p.Phe317Leu
NM_001282489.3:c.640T>C	NP_001269418.1:p.Phe214Leu