Canonical Allele Identifier: CA418789305

Linked Data

MyVariant Identifiers: chr1:g.93303016C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837459C>A , CM000663.2:g.92837459C>A GRCh38
NC_000001.10:g.93303016C>A , CM000663.1:g.93303016C>A GRCh37
NC_000001.9:g.93075604C>A NCBI36
NG_011779.1:g.10423C>A
NG_033051.1:g.129064G>T
NG_011779.2:g.10474C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.531C>A (RPL5) MANE Select ENSP00000359345.2:p.Thr177=
ENST00000645119.1:c.324+2546C>A (RPL5) ENSP00000493811.1:n.324+2546C>A
ENST00000645300.1:c.381C>A (RPL5) ENSP00000495589.1:p.Thr127=
ENST00000645908.1:n.265C>A (RPL5)
ENST00000315741.5:c.381C>A (RPL5) ENSP00000359338.2:p.Thr127=
ENST00000370321.7:c.531C>A (RPL5) ENSP00000359345.2:p.Thr177=
ENST00000497519.1:n.850C>A (RPL5)
ENST00000615519.4:c.475-4425G>T (DIPK1A) ENSP00000483279.1:n.475-4425G>T
NM_000969.3:c.531C>A (RPL5) NP_000960.2:p.Thr177=
NM_001252273.1:c.475-4425G>T (DIPK1A) NP_001239202.1:n.475-4425G>T
NM_000969.5:c.531C>A (RPL5) MANE Select NP_000960.2:p.Thr177=
NR_146333.1:n.590C>A (RPL5)
NM_001252273.2:c.475-4425G>T (DIPK1A) NP_001239202.1:n.475-4425G>T