Canonical Allele Identifier: CA507576384
Gene: RPS19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.42373240C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869170C>A , CM000681.2:g.41869170C>A GRCh38
NC_000019.9:g.42373240C>A , CM000681.1:g.42373240C>A GRCh37
NC_000019.8:g.47065080C>A NCBI36
NG_007080.2:g.14253C>A
NG_007080.3:g.14253C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000598742.6:c.312C>A MANE Select ENSP00000470972.1:p.Leu104=
ENST00000600467.6:c.312C>A ENSP00000469228.2:p.Leu104=
ENST00000221975.6:c.90C>A ENSP00000221975.2:p.Leu30=
ENST00000593863.5:c.312C>A ENSP00000470004.1:p.Leu104=
ENST00000598399.1:c.1150C>A ENSP00000472660.1:n.1150C>A
ENST00000598742.5:c.312C>A ENSP00000470972.1:p.Leu104=
NM_001022.3:c.312C>A NP_001013.1:p.Leu104=
NM_001321483.1:c.312C>A NP_001308412.1:p.Leu104=
NM_001321484.1:c.312C>A NP_001308413.1:p.Leu104=
NM_001321485.1:c.325C>A NP_001308414.1:p.Pro109Thr
XM_017027113.2:c.312C>A XP_016882602.1:p.Leu104=
NM_001022.4:c.312C>A MANE Select NP_001013.1:p.Leu104=
NM_001321483.2:c.312C>A NP_001308412.1:p.Leu104=
NM_001321484.2:c.312C>A NP_001308413.1:p.Leu104=
NM_001321485.2:c.325C>A NP_001308414.1:p.Pro109Thr