Canonical Allele Identifier: CA400961494

Gene: USH1G

Linked Data

• dbSNP Id: rs1266767329
• MyVariant Identifiers: chr17:g.72915744A>T (hg19) ; chr17:g.74919649A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919649A>T , CM000679.2:g.74919649A>T	GRCh38
NC_000017.10:g.72915744A>T , CM000679.1:g.72915744A>T	GRCh37
NC_000017.9:g.70427339A>T	NCBI36
NG_007882.1:g.8608T>A
NG_033062.1:g.375A>T
NG_007882.2:g.8615T>A
NG_033062.2:g.375A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1187T>A MANE Select	ENSP00000480279.1:p.Leu396Gln
ENST00000579243.1:c.*786T>A	ENSP00000462568.1:n.*786T>A
ENST00000614341.4:c.1187T>A	ENSP00000480279.1:p.Leu396Gln
NM_001282489.2:c.878T>A	NP_001269418.1:p.Leu293Gln
NM_173477.4:c.1187T>A	NP_775748.2:p.Leu396Gln
XM_011524296.1:c.878T>A	XP_011522598.1:p.Leu293Gln
XM_011524296.2:c.878T>A	XP_011522598.1:p.Leu293Gln
NM_173477.5:c.1187T>A MANE Select	NP_775748.2:p.Leu396Gln
NM_001282489.3:c.878T>A	NP_001269418.1:p.Leu293Gln