Canonical Allele Identifier: CA379801108

Gene: USH1C

Linked Data

• gnomAD v4: 11-17498235-T-C
• MyVariant Identifiers: chr11:g.17519782T>C (hg19) ; chr11:g.17498235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498235T>C , CM000673.2:g.17498235T>C	GRCh38
NC_000011.9:g.17519782T>C , CM000673.1:g.17519782T>C	GRCh37
NC_000011.8:g.17476358T>C	NCBI36
NG_011883.1:g.51182A>G
NG_011883.2:g.51182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2417A>G MANE Select	ENSP00000005226.7:p.Asn806Ser
ENST00000318024.9:c.1517A>G MANE Plus Clinical	ENSP00000317018.4:p.Asn506Ser
ENST00000005226.11:c.2417A>G	ENSP00000005226.7:p.Asn806Ser
ENST00000318024.8:c.1517A>G	ENSP00000317018.4:p.Asn506Ser
ENST00000526313.5:c.*231A>G	ENSP00000432236.1:n.*231A>G
ENST00000527020.5:c.1460A>G	ENSP00000436934.1:p.Asn487Ser
ENST00000527720.5:c.1424A>G	ENSP00000432944.1:p.Asn475Ser
ENST00000529563.5:n.401A>G
NM_001297764.1:c.1460A>G	NP_001284693.1:p.Asn487Ser
NM_005709.3:c.1517A>G	NP_005700.2:p.Asn506Ser
NM_153676.3:c.2417A>G	NP_710142.1:p.Asn806Ser
NR_123738.1:n.1552A>G
XM_011519831.1:c.2441A>G	XP_011518133.1:p.Asn814Ser
XM_011519832.1:c.1670A>G	XP_011518134.1:p.Asn557Ser
XM_011519832.3:c.1670A>G	XP_011518134.1:p.Asn557Ser
XM_017017075.1:c.2417A>G	XP_016872564.1:p.Asn806Ser
XR_001747717.2:n.1676A>G
NM_153676.4:c.2417A>G MANE Select	NP_710142.1:p.Asn806Ser
NM_001297764.2:c.1460A>G	NP_001284693.1:p.Asn487Ser
NM_005709.4:c.1517A>G MANE Plus Clinical	NP_005700.2:p.Asn506Ser
NR_123738.2:n.1552A>G