Canonical Allele Identifier: CA293983714

Gene: USH1G

Linked Data

• dbSNP Id: rs1023348230
• gnomAD v2: 17-72915865-T-C
• gnomAD v3: 17-74919770-T-C
• gnomAD v4: 17-74919770-T-C
• MyVariant Identifiers: chr17:g.72915865T>C (hg19) ; chr17:g.74919770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919770T>C , CM000679.2:g.74919770T>C	GRCh38
NC_000017.10:g.72915865T>C , CM000679.1:g.72915865T>C	GRCh37
NC_000017.9:g.70427460T>C	NCBI36
NG_007882.1:g.8487A>G
NG_033062.1:g.496T>C
NG_007882.2:g.8494A>G
NG_033062.2:g.496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1066A>G MANE Select	ENSP00000480279.1:p.Ser356Gly
ENST00000579243.1:c.*665A>G	ENSP00000462568.1:n.*665A>G
ENST00000614341.4:c.1066A>G	ENSP00000480279.1:p.Ser356Gly
NM_001282489.2:c.757A>G	NP_001269418.1:p.Ser253Gly
NM_173477.4:c.1066A>G	NP_775748.2:p.Ser356Gly
XM_011524296.1:c.757A>G	XP_011522598.1:p.Ser253Gly
XM_011524296.2:c.757A>G	XP_011522598.1:p.Ser253Gly
NM_173477.5:c.1066A>G MANE Select	NP_775748.2:p.Ser356Gly
NM_001282489.3:c.757A>G	NP_001269418.1:p.Ser253Gly