Canonical Allele Identifier: CA2639748368

Gene: USH1G

Linked Data

• gnomAD v4: 17-74922844-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922844A>G , CM000679.2:g.74922844A>G	GRCh38
NC_000017.10:g.72918939A>G , CM000679.1:g.72918939A>G	GRCh37
NC_000017.9:g.70430534A>G	NCBI36
NG_007882.1:g.5413T>C
NG_033062.1:g.3570A>G
NG_007882.2:g.5420T>C
NG_033062.2:g.3570A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.164+66T>C MANE Select	ENSP00000480279.1:n.164+66T>C
ENST00000579243.1:c.164+66T>C	ENSP00000462568.1:n.164+66T>C
ENST00000614341.4:c.164+66T>C	ENSP00000480279.1:n.164+66T>C
NM_001282489.2:c.-93+66T>C	NP_001269418.1:n.-93+66T>C
NM_173477.4:c.164+66T>C	NP_775748.2:n.164+66T>C
XM_011524296.1:c.-414T>C	XP_011522598.1:n.-414T>C
XM_011524296.2:c.-414T>C	XP_011522598.1:n.-414T>C
NM_173477.5:c.164+66T>C MANE Select	NP_775748.2:n.164+66T>C
NM_001282489.3:c.-93+66T>C	NP_001269418.1:n.-93+66T>C