Canonical Allele Identifier: CA502036437

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915884G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919789G>C , CM000679.2:g.74919789G>C	GRCh38
NC_000017.10:g.72915884G>C , CM000679.1:g.72915884G>C	GRCh37
NC_000017.9:g.70427479G>C	NCBI36
NG_007882.1:g.8468C>G
NG_033062.1:g.515G>C
NG_007882.2:g.8475C>G
NG_033062.2:g.515G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1047C>G MANE Select	ENSP00000480279.1:p.Ser349=
ENST00000579243.1:c.*646C>G	ENSP00000462568.1:n.*646C>G
ENST00000614341.4:c.1047C>G	ENSP00000480279.1:p.Ser349=
NM_001282489.2:c.738C>G	NP_001269418.1:p.Ser246=
NM_173477.4:c.1047C>G	NP_775748.2:p.Ser349=
XM_011524296.1:c.738C>G	XP_011522598.1:p.Ser246=
XM_011524296.2:c.738C>G	XP_011522598.1:p.Ser246=
NM_173477.5:c.1047C>G MANE Select	NP_775748.2:p.Ser349=
NM_001282489.3:c.738C>G	NP_001269418.1:p.Ser246=