Canonical Allele Identifier: CA400961302

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72915652G>T (hg19) ; chr17:g.74919557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919557G>T , CM000679.2:g.74919557G>T	GRCh38
NC_000017.10:g.72915652G>T , CM000679.1:g.72915652G>T	GRCh37
NC_000017.9:g.70427247G>T	NCBI36
NG_007882.1:g.8700C>A
NG_033062.1:g.283G>T
NG_007882.2:g.8707C>A
NG_033062.2:g.283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1279C>A MANE Select	ENSP00000480279.1:p.Arg427Ser
ENST00000579243.1:c.*878C>A	ENSP00000462568.1:n.*878C>A
ENST00000614341.4:c.1279C>A	ENSP00000480279.1:p.Arg427Ser
NM_001282489.2:c.970C>A	NP_001269418.1:p.Arg324Ser
NM_173477.4:c.1279C>A	NP_775748.2:p.Arg427Ser
XM_011524296.1:c.970C>A	XP_011522598.1:p.Arg324Ser
XM_011524296.2:c.970C>A	XP_011522598.1:p.Arg324Ser
NM_173477.5:c.1279C>A MANE Select	NP_775748.2:p.Arg427Ser
NM_001282489.3:c.970C>A	NP_001269418.1:p.Arg324Ser