Canonical Allele Identifier: CA3077339283
Community Standard Title: NM_206933.4(USH2A):c.14420C= (p.Ala4807=)
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215648690G= , CM000663.2:g.215648690G= GRCh38
NC_000001.10:g.215822032G= , CM000663.1:g.215822032G= GRCh37
NC_000001.9:g.213888655G= NCBI36
NG_009497.1:g.779707C=
NG_009497.2:g.779759C=

Transcript Alleles

HGVS Amino-acid Change
NM_206933.4:c.14420C= MANE Select NP_996816.3:p.Ala4807=
ENST00000307340.8:c.14420C= MANE Select ENSP00000305941.3:p.Ala4807=
NM_206933.2:c.14420C= NP_996816.2:p.Ala4807=
NM_206933.3:c.14420C= NP_996816.2:p.Ala4807=
ENST00000307340.7:c.14420C= ENSP00000305941.3:p.Ala4807=
ENST00000674083.1:c.14420C= ENSP00000501296.1:p.Ala4807=