Canonical Allele Identifier: CA8753904

Gene: USH1G

Linked Data

• dbSNP Id: rs774909603
• ExAC: 17:72915691 C / G
• gnomAD v2: 17-72915691-C-G
• gnomAD v4: 17-74919596-C-G
• MyVariant Identifiers: chr17:g.72915691C>G (hg19) ; chr17:g.74919596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919596C>G , CM000679.2:g.74919596C>G	GRCh38
NC_000017.10:g.72915691C>G , CM000679.1:g.72915691C>G	GRCh37
NC_000017.9:g.70427286C>G	NCBI36
NG_007882.1:g.8661G>C
NG_033062.1:g.322C>G
NG_007882.2:g.8668G>C
NG_033062.2:g.322C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1240G>C MANE Select	ENSP00000480279.1:p.Asp414His
ENST00000579243.1:c.*839G>C	ENSP00000462568.1:n.*839G>C
ENST00000614341.4:c.1240G>C	ENSP00000480279.1:p.Asp414His
NM_001282489.2:c.931G>C	NP_001269418.1:p.Asp311His
NM_173477.4:c.1240G>C	NP_775748.2:p.Asp414His
XM_011524296.1:c.931G>C	XP_011522598.1:p.Asp311His
XM_011524296.2:c.931G>C	XP_011522598.1:p.Asp311His
NM_173477.5:c.1240G>C MANE Select	NP_775748.2:p.Asp414His
NM_001282489.3:c.931G>C	NP_001269418.1:p.Asp311His