Canonical Allele Identifier: CA502036503

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916181G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920086G>C , CM000679.2:g.74920086G>C	GRCh38
NC_000017.10:g.72916181G>C , CM000679.1:g.72916181G>C	GRCh37
NC_000017.9:g.70427776G>C	NCBI36
NG_007882.1:g.8171C>G
NG_033062.1:g.812G>C
NG_007882.2:g.8178C>G
NG_033062.2:g.812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.750C>G MANE Select	ENSP00000480279.1:p.Gly250=
ENST00000579243.1:c.*349C>G	ENSP00000462568.1:n.*349C>G
ENST00000614341.4:c.750C>G	ENSP00000480279.1:p.Gly250=
NM_001282489.2:c.441C>G	NP_001269418.1:p.Gly147=
NM_173477.4:c.750C>G	NP_775748.2:p.Gly250=
XM_011524296.1:c.441C>G	XP_011522598.1:p.Gly147=
XM_011524296.2:c.441C>G	XP_011522598.1:p.Gly147=
NM_173477.5:c.750C>G MANE Select	NP_775748.2:p.Gly250=
NM_001282489.3:c.441C>G	NP_001269418.1:p.Gly147=