Canonical Allele Identifier: CA418789309

Linked Data

MyVariant Identifiers: chr1:g.93303022A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837465A>C , CM000663.2:g.92837465A>C GRCh38
NC_000001.10:g.93303022A>C , CM000663.1:g.93303022A>C GRCh37
NC_000001.9:g.93075610A>C NCBI36
NG_011779.1:g.10429A>C
NG_033051.1:g.129058T>G
NG_011779.2:g.10480A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.537A>C (RPL5) MANE Select ENSP00000359345.2:p.Arg179=
ENST00000645119.1:c.324+2552A>C (RPL5) ENSP00000493811.1:n.324+2552A>C
ENST00000645300.1:c.387A>C (RPL5) ENSP00000495589.1:p.Arg129=
ENST00000645908.1:n.271A>C (RPL5)
ENST00000315741.5:c.387A>C (RPL5) ENSP00000359338.2:p.Arg129=
ENST00000370321.7:c.537A>C (RPL5) ENSP00000359345.2:p.Arg179=
ENST00000497519.1:n.856A>C (RPL5)
ENST00000615519.4:c.475-4431T>G (DIPK1A) ENSP00000483279.1:n.475-4431T>G
NM_000969.3:c.537A>C (RPL5) NP_000960.2:p.Arg179=
NM_001252273.1:c.475-4431T>G (DIPK1A) NP_001239202.1:n.475-4431T>G
NM_000969.5:c.537A>C (RPL5) MANE Select NP_000960.2:p.Arg179=
NR_146333.1:n.596A>C (RPL5)
NM_001252273.2:c.475-4431T>G (DIPK1A) NP_001239202.1:n.475-4431T>G