Canonical Allele Identifier: CA2639748385

Gene: USH1G

Linked Data

• gnomAD v4: 17-74922859-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922859A>C , CM000679.2:g.74922859A>C	GRCh38
NC_000017.10:g.72918954A>C , CM000679.1:g.72918954A>C	GRCh37
NC_000017.9:g.70430549A>C	NCBI36
NG_007882.1:g.5398T>G
NG_033062.1:g.3585A>C
NG_007882.2:g.5405T>G
NG_033062.2:g.3585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.164+51T>G MANE Select	ENSP00000480279.1:n.164+51T>G
ENST00000579243.1:c.164+51T>G	ENSP00000462568.1:n.164+51T>G
ENST00000614341.4:c.164+51T>G	ENSP00000480279.1:n.164+51T>G
NM_001282489.2:c.-93+51T>G	NP_001269418.1:n.-93+51T>G
NM_173477.4:c.164+51T>G	NP_775748.2:n.164+51T>G
XM_011524296.1:c.-429T>G	XP_011522598.1:n.-429T>G
XM_011524296.2:c.-429T>G	XP_011522598.1:n.-429T>G
NM_173477.5:c.164+51T>G MANE Select	NP_775748.2:n.164+51T>G
NM_001282489.3:c.-93+51T>G	NP_001269418.1:n.-93+51T>G