Canonical Allele Identifier: CA507576371
Gene: RPS19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.42373228C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869158C>G , CM000681.2:g.41869158C>G GRCh38
NC_000019.9:g.42373228C>G , CM000681.1:g.42373228C>G GRCh37
NC_000019.8:g.47065068C>G NCBI36
NG_007080.2:g.14241C>G
NG_007080.3:g.14241C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000598742.6:c.300C>G MANE Select ENSP00000470972.1:p.Ala100=
ENST00000600467.6:c.300C>G ENSP00000469228.2:p.Ala100=
ENST00000221975.6:c.78C>G ENSP00000221975.2:p.Ala26=
ENST00000593863.5:c.300C>G ENSP00000470004.1:p.Ala100=
ENST00000598399.1:c.1138C>G ENSP00000472660.1:n.1138C>G
ENST00000598742.5:c.300C>G ENSP00000470972.1:p.Ala100=
NM_001022.3:c.300C>G NP_001013.1:p.Ala100=
NM_001321483.1:c.300C>G NP_001308412.1:p.Ala100=
NM_001321484.1:c.300C>G NP_001308413.1:p.Ala100=
NM_001321485.1:c.313C>G NP_001308414.1:p.Pro105Ala
XM_017027113.2:c.300C>G XP_016882602.1:p.Ala100=
NM_001022.4:c.300C>G MANE Select NP_001013.1:p.Ala100=
NM_001321483.2:c.300C>G NP_001308412.1:p.Ala100=
NM_001321484.2:c.300C>G NP_001308413.1:p.Ala100=
NM_001321485.2:c.313C>G NP_001308414.1:p.Pro105Ala