Canonical Allele Identifier: CA502036806

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920218-C-G
• MyVariant Identifiers: chr17:g.72916313C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920218C>G , CM000679.2:g.74920218C>G	GRCh38
NC_000017.10:g.72916313C>G , CM000679.1:g.72916313C>G	GRCh37
NC_000017.9:g.70427908C>G	NCBI36
NG_007882.1:g.8039G>C
NG_033062.1:g.944C>G
NG_007882.2:g.8046G>C
NG_033062.2:g.944C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.618G>C MANE Select	ENSP00000480279.1:p.Leu206=
ENST00000579243.1:c.*217G>C	ENSP00000462568.1:n.*217G>C
ENST00000614341.4:c.618G>C	ENSP00000480279.1:p.Leu206=
NM_001282489.2:c.309G>C	NP_001269418.1:p.Leu103=
NM_173477.4:c.618G>C	NP_775748.2:p.Leu206=
XM_011524296.1:c.309G>C	XP_011522598.1:p.Leu103=
XM_011524296.2:c.309G>C	XP_011522598.1:p.Leu103=
NM_173477.5:c.618G>C MANE Select	NP_775748.2:p.Leu206=
NM_001282489.3:c.309G>C	NP_001269418.1:p.Leu103=