Canonical Allele Identifier: CA400964347

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916322C>A (hg19) ; chr17:g.74920227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920227C>A , CM000679.2:g.74920227C>A	GRCh38
NC_000017.10:g.72916322C>A , CM000679.1:g.72916322C>A	GRCh37
NC_000017.9:g.70427917C>A	NCBI36
NG_007882.1:g.8030G>T
NG_033062.1:g.953C>A
NG_007882.2:g.8037G>T
NG_033062.2:g.953C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.609G>T MANE Select	ENSP00000480279.1:p.Gln203His
ENST00000579243.1:c.*208G>T	ENSP00000462568.1:n.*208G>T
ENST00000614341.4:c.609G>T	ENSP00000480279.1:p.Gln203His
NM_001282489.2:c.300G>T	NP_001269418.1:p.Gln100His
NM_173477.4:c.609G>T	NP_775748.2:p.Gln203His
XM_011524296.1:c.300G>T	XP_011522598.1:p.Gln100His
XM_011524296.2:c.300G>T	XP_011522598.1:p.Gln100His
NM_173477.5:c.609G>T MANE Select	NP_775748.2:p.Gln203His
NM_001282489.3:c.300G>T	NP_001269418.1:p.Gln100His