Canonical Allele Identifier: CA354496996
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129247925G>T (hg19) chr3:g.129529082G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529082G>T , CM000665.2:g.129529082G>T GRCh38
NC_000003.11:g.129247925G>T , CM000665.1:g.129247925G>T GRCh37
NC_000003.10:g.130730615G>T NCBI36
NG_009115.1:g.5444G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.349G>T MANE Select ENSP00000296271.3:p.Ala117Ser
ENST00000296271.3:c.349G>T ENSP00000296271.3:p.Ala117Ser
NM_000539.3:c.349G>T MANE Select NP_000530.1:p.Ala117Ser
Search 100 bp 5'
Search 100 bp 3'