Canonical Allele Identifier: CA400964100

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916277C>G (hg19) ; chr17:g.74920182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920182C>G , CM000679.2:g.74920182C>G	GRCh38
NC_000017.10:g.72916277C>G , CM000679.1:g.72916277C>G	GRCh37
NC_000017.9:g.70427872C>G	NCBI36
NG_007882.1:g.8075G>C
NG_033062.1:g.908C>G
NG_007882.2:g.8082G>C
NG_033062.2:g.908C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.654G>C MANE Select	ENSP00000480279.1:p.Lys218Asn
ENST00000579243.1:c.*253G>C	ENSP00000462568.1:n.*253G>C
ENST00000614341.4:c.654G>C	ENSP00000480279.1:p.Lys218Asn
NM_001282489.2:c.345G>C	NP_001269418.1:p.Lys115Asn
NM_173477.4:c.654G>C	NP_775748.2:p.Lys218Asn
XM_011524296.1:c.345G>C	XP_011522598.1:p.Lys115Asn
XM_011524296.2:c.345G>C	XP_011522598.1:p.Lys115Asn
NM_173477.5:c.654G>C MANE Select	NP_775748.2:p.Lys218Asn
NM_001282489.3:c.345G>C	NP_001269418.1:p.Lys115Asn