Canonical Allele Identifier: CA502036858

Gene: USH1G

Linked Data

• dbSNP Id: rs2038922970
• MyVariant Identifiers: chr17:g.72916328G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920233G>A , CM000679.2:g.74920233G>A	GRCh38
NC_000017.10:g.72916328G>A , CM000679.1:g.72916328G>A	GRCh37
NC_000017.9:g.70427923G>A	NCBI36
NG_007882.1:g.8024C>T
NG_033062.1:g.959G>A
NG_007882.2:g.8031C>T
NG_033062.2:g.959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.603C>T MANE Select	ENSP00000480279.1:p.Tyr201=
ENST00000579243.1:c.*202C>T	ENSP00000462568.1:n.*202C>T
ENST00000614341.4:c.603C>T	ENSP00000480279.1:p.Tyr201=
NM_001282489.2:c.294C>T	NP_001269418.1:p.Tyr98=
NM_173477.4:c.603C>T	NP_775748.2:p.Tyr201=
XM_011524296.1:c.294C>T	XP_011522598.1:p.Tyr98=
XM_011524296.2:c.294C>T	XP_011522598.1:p.Tyr98=
NM_173477.5:c.603C>T MANE Select	NP_775748.2:p.Tyr201=
NM_001282489.3:c.294C>T	NP_001269418.1:p.Tyr98=