Canonical Allele Identifier: CA400962753

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916047G>T (hg19) ; chr17:g.74919952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919952G>T , CM000679.2:g.74919952G>T	GRCh38
NC_000017.10:g.72916047G>T , CM000679.1:g.72916047G>T	GRCh37
NC_000017.9:g.70427642G>T	NCBI36
NG_007882.1:g.8305C>A
NG_033062.1:g.678G>T
NG_007882.2:g.8312C>A
NG_033062.2:g.678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.884C>A MANE Select	ENSP00000480279.1:p.Ser295Ter
ENST00000579243.1:c.*483C>A	ENSP00000462568.1:n.*483C>A
ENST00000614341.4:c.884C>A	ENSP00000480279.1:p.Ser295Ter
NM_001282489.2:c.575C>A	NP_001269418.1:p.Ser192Ter
NM_173477.4:c.884C>A	NP_775748.2:p.Ser295Ter
XM_011524296.1:c.575C>A	XP_011522598.1:p.Ser192Ter
XM_011524296.2:c.575C>A	XP_011522598.1:p.Ser192Ter
NM_173477.5:c.884C>A MANE Select	NP_775748.2:p.Ser295Ter
NM_001282489.3:c.575C>A	NP_001269418.1:p.Ser192Ter