Canonical Allele Identifier: CA502036887

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916334C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920239C>A , CM000679.2:g.74920239C>A	GRCh38
NC_000017.10:g.72916334C>A , CM000679.1:g.72916334C>A	GRCh37
NC_000017.9:g.70427929C>A	NCBI36
NG_007882.1:g.8018G>T
NG_033062.1:g.965C>A
NG_007882.2:g.8025G>T
NG_033062.2:g.965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.597G>T MANE Select	ENSP00000480279.1:p.Leu199=
ENST00000579243.1:c.*196G>T	ENSP00000462568.1:n.*196G>T
ENST00000614341.4:c.597G>T	ENSP00000480279.1:p.Leu199=
NM_001282489.2:c.288G>T	NP_001269418.1:p.Leu96=
NM_173477.4:c.597G>T	NP_775748.2:p.Leu199=
XM_011524296.1:c.288G>T	XP_011522598.1:p.Leu96=
XM_011524296.2:c.288G>T	XP_011522598.1:p.Leu96=
NM_173477.5:c.597G>T MANE Select	NP_775748.2:p.Leu199=
NM_001282489.3:c.288G>T	NP_001269418.1:p.Leu96=