Canonical Allele Identifier: CA502036648

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919663-C-G
• MyVariant Identifiers: chr17:g.72915758C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919663C>G , CM000679.2:g.74919663C>G	GRCh38
NC_000017.10:g.72915758C>G , CM000679.1:g.72915758C>G	GRCh37
NC_000017.9:g.70427353C>G	NCBI36
NG_007882.1:g.8594G>C
NG_033062.1:g.389C>G
NG_007882.2:g.8601G>C
NG_033062.2:g.389C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1173G>C MANE Select	ENSP00000480279.1:p.Pro391=
ENST00000579243.1:c.*772G>C	ENSP00000462568.1:n.*772G>C
ENST00000614341.4:c.1173G>C	ENSP00000480279.1:p.Pro391=
NM_001282489.2:c.864G>C	NP_001269418.1:p.Pro288=
NM_173477.4:c.1173G>C	NP_775748.2:p.Pro391=
XM_011524296.1:c.864G>C	XP_011522598.1:p.Pro288=
XM_011524296.2:c.864G>C	XP_011522598.1:p.Pro288=
NM_173477.5:c.1173G>C MANE Select	NP_775748.2:p.Pro391=
NM_001282489.3:c.864G>C	NP_001269418.1:p.Pro288=