Canonical Allele Identifier: CA184442

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920119C>G , CM000679.2:g.74920119C>G	GRCh38
NC_000017.10:g.72916214C>G , CM000679.1:g.72916214C>G	GRCh37
NC_000017.9:g.70427809C>G	NCBI36
NG_007882.1:g.8138G>C
NG_033062.1:g.845C>G
NG_007882.2:g.8145G>C
NG_033062.2:g.845C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_173477.5:c.717G>C MANE Select	NP_775748.2:p.Lys239Asn
ENST00000614341.5:c.717G>C MANE Select	ENSP00000480279.1:p.Lys239Asn
NM_001282489.2:c.408G>C	NP_001269418.1:p.Lys136Asn
NM_001282489.3:c.408G>C	NP_001269418.1:p.Lys136Asn
NM_173477.4:c.717G>C	NP_775748.2:p.Lys239Asn
ENST00000579243.1:c.*316G>C	ENSP00000462568.1:n.*316G>C
ENST00000614341.4:c.717G>C	ENSP00000480279.1:p.Lys239Asn
XM_011524296.1:c.408G>C	XP_011522598.1:p.Lys136Asn
XM_011524296.2:c.408G>C	XP_011522598.1:p.Lys136Asn