Canonical Allele Identifier: CA775055419

Gene: USH1G

Linked Data

• dbSNP Id: rs1299901962
• gnomAD v3: 17-74922866-G-C
• gnomAD v4: 17-74922866-G-C
• MyVariant Identifiers: chr17:g.72918961G>C (hg19) ; chr17:g.74922866G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74922866G>C , CM000679.2:g.74922866G>C	GRCh38
NC_000017.10:g.72918961G>C , CM000679.1:g.72918961G>C	GRCh37
NC_000017.9:g.70430556G>C	NCBI36
NG_007882.1:g.5391C>G
NG_033062.1:g.3592G>C
NG_007882.2:g.5398C>G
NG_033062.2:g.3592G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.164+44C>G MANE Select	ENSP00000480279.1:n.164+44C>G
ENST00000579243.1:c.164+44C>G	ENSP00000462568.1:n.164+44C>G
ENST00000614341.4:c.164+44C>G	ENSP00000480279.1:n.164+44C>G
NM_001282489.2:c.-93+44C>G	NP_001269418.1:n.-93+44C>G
NM_173477.4:c.164+44C>G	NP_775748.2:n.164+44C>G
XM_011524296.1:c.-436C>G	XP_011522598.1:n.-436C>G
XM_011524296.2:c.-436C>G	XP_011522598.1:n.-436C>G
NM_173477.5:c.164+44C>G MANE Select	NP_775748.2:n.164+44C>G
NM_001282489.3:c.-93+44C>G	NP_001269418.1:n.-93+44C>G