Canonical Allele Identifier: CA400963656

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920108-G-C
• MyVariant Identifiers: chr17:g.72916203G>C (hg19) ; chr17:g.74920108G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920108G>C , CM000679.2:g.74920108G>C	GRCh38
NC_000017.10:g.72916203G>C , CM000679.1:g.72916203G>C	GRCh37
NC_000017.9:g.70427798G>C	NCBI36
NG_007882.1:g.8149C>G
NG_033062.1:g.834G>C
NG_007882.2:g.8156C>G
NG_033062.2:g.834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.728C>G MANE Select	ENSP00000480279.1:p.Ser243Trp
ENST00000579243.1:c.*327C>G	ENSP00000462568.1:n.*327C>G
ENST00000614341.4:c.728C>G	ENSP00000480279.1:p.Ser243Trp
NM_001282489.2:c.419C>G	NP_001269418.1:p.Ser140Trp
NM_173477.4:c.728C>G	NP_775748.2:p.Ser243Trp
XM_011524296.1:c.419C>G	XP_011522598.1:p.Ser140Trp
XM_011524296.2:c.419C>G	XP_011522598.1:p.Ser140Trp
NM_173477.5:c.728C>G MANE Select	NP_775748.2:p.Ser243Trp
NM_001282489.3:c.419C>G	NP_001269418.1:p.Ser140Trp