Canonical Allele Identifier: CA2639748278

Gene: USH1G

Linked Data

• gnomAD v4: 17-74922761-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922761G>T , CM000679.2:g.74922761G>T	GRCh38
NC_000017.10:g.72918856G>T , CM000679.1:g.72918856G>T	GRCh37
NC_000017.9:g.70430451G>T	NCBI36
NG_007882.1:g.5496C>A
NG_033062.1:g.3487G>T
NG_007882.2:g.5503C>A
NG_033062.2:g.3487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.164+149C>A MANE Select	ENSP00000480279.1:n.164+149C>A
ENST00000579243.1:c.164+149C>A	ENSP00000462568.1:n.164+149C>A
ENST00000614341.4:c.164+149C>A	ENSP00000480279.1:n.164+149C>A
NM_001282489.2:c.-93+149C>A	NP_001269418.1:n.-93+149C>A
NM_173477.4:c.164+149C>A	NP_775748.2:n.164+149C>A
XM_011524296.1:c.-331C>A	XP_011522598.1:n.-331C>A
XM_011524296.2:c.-331C>A	XP_011522598.1:n.-331C>A
NM_173477.5:c.164+149C>A MANE Select	NP_775748.2:n.164+149C>A
NM_001282489.3:c.-93+149C>A	NP_001269418.1:n.-93+149C>A