Canonical Allele Identifier: CA2639748276

Gene: USH1G

Linked Data

• gnomAD v4: 17-74922760-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922760T>G , CM000679.2:g.74922760T>G	GRCh38
NC_000017.10:g.72918855T>G , CM000679.1:g.72918855T>G	GRCh37
NC_000017.9:g.70430450T>G	NCBI36
NG_007882.1:g.5497A>C
NG_033062.1:g.3486T>G
NG_007882.2:g.5504A>C
NG_033062.2:g.3486T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.164+150A>C MANE Select	ENSP00000480279.1:n.164+150A>C
ENST00000579243.1:c.164+150A>C	ENSP00000462568.1:n.164+150A>C
ENST00000614341.4:c.164+150A>C	ENSP00000480279.1:n.164+150A>C
NM_001282489.2:c.-93+150A>C	NP_001269418.1:n.-93+150A>C
NM_173477.4:c.164+150A>C	NP_775748.2:n.164+150A>C
XM_011524296.1:c.-330A>C	XP_011522598.1:n.-330A>C
XM_011524296.2:c.-330A>C	XP_011522598.1:n.-330A>C
NM_173477.5:c.164+150A>C MANE Select	NP_775748.2:n.164+150A>C
NM_001282489.3:c.-93+150A>C	NP_001269418.1:n.-93+150A>C