Canonical Allele Identifier: CA502036845

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920230-A-G
• MyVariant Identifiers: chr17:g.72916325A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920230A>G , CM000679.2:g.74920230A>G	GRCh38
NC_000017.10:g.72916325A>G , CM000679.1:g.72916325A>G	GRCh37
NC_000017.9:g.70427920A>G	NCBI36
NG_007882.1:g.8027T>C
NG_033062.1:g.956A>G
NG_007882.2:g.8034T>C
NG_033062.2:g.956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.606T>C MANE Select	ENSP00000480279.1:p.Ser202=
ENST00000579243.1:c.*205T>C	ENSP00000462568.1:n.*205T>C
ENST00000614341.4:c.606T>C	ENSP00000480279.1:p.Ser202=
NM_001282489.2:c.297T>C	NP_001269418.1:p.Ser99=
NM_173477.4:c.606T>C	NP_775748.2:p.Ser202=
XM_011524296.1:c.297T>C	XP_011522598.1:p.Ser99=
XM_011524296.2:c.297T>C	XP_011522598.1:p.Ser99=
NM_173477.5:c.606T>C MANE Select	NP_775748.2:p.Ser202=
NM_001282489.3:c.297T>C	NP_001269418.1:p.Ser99=