Canonical Allele Identifier: CA2723259317

Gene: USH1C

Linked Data

• dbSNP Id: rs2133772060

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498114T>G , CM000673.2:g.17498114T>G	GRCh38
NC_000011.9:g.17519661T>G , CM000673.1:g.17519661T>G	GRCh37
NC_000011.8:g.17476237T>G	NCBI36
NG_011883.1:g.51303A>C
NG_011883.2:g.51303A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2490+48A>C MANE Select	ENSP00000005226.7:n.2490+48A>C
ENST00000318024.9:c.1590+48A>C MANE Plus Clinical	ENSP00000317018.4:n.1590+48A>C
ENST00000005226.11:c.2490+48A>C	ENSP00000005226.7:n.2490+48A>C
ENST00000318024.8:c.1590+48A>C	ENSP00000317018.4:n.1590+48A>C
ENST00000526313.5:c.*304+48A>C	ENSP00000432236.1:n.*304+48A>C
ENST00000527020.5:c.1533+48A>C	ENSP00000436934.1:n.1533+48A>C
ENST00000527720.5:c.1497+48A>C	ENSP00000432944.1:n.1497+48A>C
ENST00000529563.5:n.474+48A>C
NM_001297764.1:c.1533+48A>C	NP_001284693.1:n.1533+48A>C
NM_005709.3:c.1590+48A>C	NP_005700.2:n.1590+48A>C
NM_153676.3:c.2490+48A>C	NP_710142.1:n.2490+48A>C
NR_123738.1:n.1625+48A>C
XM_011519831.1:c.2514+48A>C	XP_011518133.1:n.2514+48A>C
XM_011519832.1:c.1743+48A>C	XP_011518134.1:n.1743+48A>C
XM_011519832.3:c.1743+48A>C	XP_011518134.1:n.1743+48A>C
XM_017017075.1:c.2490+48A>C	XP_016872564.1:n.2490+48A>C
XR_001747717.2:n.1749+48A>C
NM_153676.4:c.2490+48A>C MANE Select	NP_710142.1:n.2490+48A>C
NM_001297764.2:c.1533+48A>C	NP_001284693.1:n.1533+48A>C
NM_005709.4:c.1590+48A>C MANE Plus Clinical	NP_005700.2:n.1590+48A>C
NR_123738.2:n.1625+48A>C