Canonical Allele Identifier: CA400967987

Gene: USH1G

Linked Data

• gnomAD v4: 17-74922947-C-T
• MyVariant Identifiers: chr17:g.72919042C>T (hg19) ; chr17:g.74922947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922947C>T , CM000679.2:g.74922947C>T	GRCh38
NC_000017.10:g.72919042C>T , CM000679.1:g.72919042C>T	GRCh37
NC_000017.9:g.70430637C>T	NCBI36
NG_007882.1:g.5310G>A
NG_033062.1:g.3673C>T
NG_007882.2:g.5317G>A
NG_033062.2:g.3673C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.127G>A MANE Select	ENSP00000480279.1:p.Gly43Ser
ENST00000579243.1:c.127G>A	ENSP00000462568.1:p.Gly43Ser
ENST00000614341.4:c.127G>A	ENSP00000480279.1:p.Gly43Ser
NM_001282489.2:c.-130G>A	NP_001269418.1:n.-130G>A
NM_173477.4:c.127G>A	NP_775748.2:p.Gly43Ser
NM_173477.5:c.127G>A MANE Select	NP_775748.2:p.Gly43Ser
NM_001282489.3:c.-130G>A	NP_001269418.1:n.-130G>A