Canonical Allele Identifier: CA400964093

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916276T>C (hg19) ; chr17:g.74920181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920181T>C , CM000679.2:g.74920181T>C	GRCh38
NC_000017.10:g.72916276T>C , CM000679.1:g.72916276T>C	GRCh37
NC_000017.9:g.70427871T>C	NCBI36
NG_007882.1:g.8076A>G
NG_033062.1:g.907T>C
NG_007882.2:g.8083A>G
NG_033062.2:g.907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.655A>G MANE Select	ENSP00000480279.1:p.Lys219Glu
ENST00000579243.1:c.*254A>G	ENSP00000462568.1:n.*254A>G
ENST00000614341.4:c.655A>G	ENSP00000480279.1:p.Lys219Glu
NM_001282489.2:c.346A>G	NP_001269418.1:p.Lys116Glu
NM_173477.4:c.655A>G	NP_775748.2:p.Lys219Glu
XM_011524296.1:c.346A>G	XP_011522598.1:p.Lys116Glu
XM_011524296.2:c.346A>G	XP_011522598.1:p.Lys116Glu
NM_173477.5:c.655A>G MANE Select	NP_775748.2:p.Lys219Glu
NM_001282489.3:c.346A>G	NP_001269418.1:p.Lys116Glu