Canonical Allele Identifier: CA502036400

Gene: USH1G

Linked Data

• dbSNP Id: rs2144751979
• COSMIC: COSM5055750
• MyVariant Identifiers: chr17:g.72915641G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919546G>A , CM000679.2:g.74919546G>A	GRCh38
NC_000017.10:g.72915641G>A , CM000679.1:g.72915641G>A	GRCh37
NC_000017.9:g.70427236G>A	NCBI36
NG_007882.1:g.8711C>T
NG_033062.1:g.272G>A
NG_007882.2:g.8718C>T
NG_033062.2:g.272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1290C>T MANE Select	ENSP00000480279.1:p.Ser430=
ENST00000579243.1:c.*889C>T	ENSP00000462568.1:n.*889C>T
ENST00000614341.4:c.1290C>T	ENSP00000480279.1:p.Ser430=
NM_001282489.2:c.981C>T	NP_001269418.1:p.Ser327=
NM_173477.4:c.1290C>T	NP_775748.2:p.Ser430=
XM_011524296.1:c.981C>T	XP_011522598.1:p.Ser327=
XM_011524296.2:c.981C>T	XP_011522598.1:p.Ser327=
NM_173477.5:c.1290C>T MANE Select	NP_775748.2:p.Ser430=
NM_001282489.3:c.981C>T	NP_001269418.1:p.Ser327=