Canonical Allele Identifier: CA400962015

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919806-C-G
• MyVariant Identifiers: chr17:g.72915901C>G (hg19) ; chr17:g.74919806C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919806C>G , CM000679.2:g.74919806C>G	GRCh38
NC_000017.10:g.72915901C>G , CM000679.1:g.72915901C>G	GRCh37
NC_000017.9:g.70427496C>G	NCBI36
NG_007882.1:g.8451G>C
NG_033062.1:g.532C>G
NG_007882.2:g.8458G>C
NG_033062.2:g.532C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.1030G>C MANE Select	ENSP00000480279.1:p.Gly344Arg
ENST00000579243.1:c.*629G>C	ENSP00000462568.1:n.*629G>C
ENST00000614341.4:c.1030G>C	ENSP00000480279.1:p.Gly344Arg
NM_001282489.2:c.721G>C	NP_001269418.1:p.Gly241Arg
NM_173477.4:c.1030G>C	NP_775748.2:p.Gly344Arg
XM_011524296.1:c.721G>C	XP_011522598.1:p.Gly241Arg
XM_011524296.2:c.721G>C	XP_011522598.1:p.Gly241Arg
NM_173477.5:c.1030G>C MANE Select	NP_775748.2:p.Gly344Arg
NM_001282489.3:c.721G>C	NP_001269418.1:p.Gly241Arg