Canonical Allele Identifier: CA379800755

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519747C>A (hg19) ; chr11:g.17498200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498200C>A , CM000673.2:g.17498200C>A	GRCh38
NC_000011.9:g.17519747C>A , CM000673.1:g.17519747C>A	GRCh37
NC_000011.8:g.17476323C>A	NCBI36
NG_011883.1:g.51217G>T
NG_011883.2:g.51217G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2452G>T MANE Select	ENSP00000005226.7:p.Ala818Ser
ENST00000318024.9:c.1552G>T MANE Plus Clinical	ENSP00000317018.4:p.Ala518Ser
ENST00000005226.11:c.2452G>T	ENSP00000005226.7:p.Ala818Ser
ENST00000318024.8:c.1552G>T	ENSP00000317018.4:p.Ala518Ser
ENST00000526313.5:c.*266G>T	ENSP00000432236.1:n.*266G>T
ENST00000527020.5:c.1495G>T	ENSP00000436934.1:p.Ala499Ser
ENST00000527720.5:c.1459G>T	ENSP00000432944.1:p.Ala487Ser
ENST00000529563.5:n.436G>T
NM_001297764.1:c.1495G>T	NP_001284693.1:p.Ala499Ser
NM_005709.3:c.1552G>T	NP_005700.2:p.Ala518Ser
NM_153676.3:c.2452G>T	NP_710142.1:p.Ala818Ser
NR_123738.1:n.1587G>T
XM_011519831.1:c.2476G>T	XP_011518133.1:p.Ala826Ser
XM_011519832.1:c.1705G>T	XP_011518134.1:p.Ala569Ser
XM_011519832.3:c.1705G>T	XP_011518134.1:p.Ala569Ser
XM_017017075.1:c.2452G>T	XP_016872564.1:p.Ala818Ser
XR_001747717.2:n.1711G>T
NM_153676.4:c.2452G>T MANE Select	NP_710142.1:p.Ala818Ser
NM_001297764.2:c.1495G>T	NP_001284693.1:p.Ala499Ser
NM_005709.4:c.1552G>T MANE Plus Clinical	NP_005700.2:p.Ala518Ser
NR_123738.2:n.1587G>T