Canonical Allele Identifier: CA379802877

Gene: USH1C

Linked Data

• dbSNP Id: rs1437881760
• gnomAD v2: 11-17522598-C-T
• gnomAD v3: 11-17501051-C-T
• gnomAD v4: 11-17501051-C-T
• MyVariant Identifiers: chr11:g.17522598C>T (hg19) ; chr11:g.17501051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501051C>T , CM000673.2:g.17501051C>T	GRCh38
NC_000011.9:g.17522598C>T , CM000673.1:g.17522598C>T	GRCh37
NC_000011.8:g.17479174C>T	NCBI36
NG_011883.1:g.48366G>A
NG_011883.2:g.48366G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2380G>A MANE Select	ENSP00000005226.7:p.Gly794Ser
ENST00000318024.9:c.1480G>A MANE Plus Clinical	ENSP00000317018.4:p.Gly494Ser
ENST00000005226.11:c.2380G>A	ENSP00000005226.7:p.Gly794Ser
ENST00000318024.8:c.1480G>A	ENSP00000317018.4:p.Gly494Ser
ENST00000526313.5:c.*194G>A	ENSP00000432236.1:n.*194G>A
ENST00000527020.5:c.1423G>A	ENSP00000436934.1:p.Gly475Ser
ENST00000527720.5:c.1387G>A	ENSP00000432944.1:p.Gly463Ser
ENST00000529563.5:n.364G>A
NM_001297764.1:c.1423G>A	NP_001284693.1:p.Gly475Ser
NM_005709.3:c.1480G>A	NP_005700.2:p.Gly494Ser
NM_153676.3:c.2380G>A	NP_710142.1:p.Gly794Ser
NR_123738.1:n.1515G>A
XM_011519831.1:c.2404G>A	XP_011518133.1:p.Gly802Ser
XM_011519832.1:c.1633G>A	XP_011518134.1:p.Gly545Ser
XM_011519833.1:c.*87G>A	XP_011518135.1:n.*87G>A
XR_930841.1:n.1851G>A
XR_930842.1:n.1792G>A
XM_011519832.3:c.1633G>A	XP_011518134.1:p.Gly545Ser
XM_017017075.1:c.2380G>A	XP_016872564.1:p.Gly794Ser
XR_001747717.2:n.1639G>A
NM_153676.4:c.2380G>A MANE Select	NP_710142.1:p.Gly794Ser
NM_001297764.2:c.1423G>A	NP_001284693.1:p.Gly475Ser
NM_005709.4:c.1480G>A MANE Plus Clinical	NP_005700.2:p.Gly494Ser
NR_123738.2:n.1515G>A