Canonical Allele Identifier: CA9465427
Community Standard Title: NM_001022.4(RPS19):c.387A>G (p.Arg129=)
Gene: RPS19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869729A>G , CM000681.2:g.41869729A>G GRCh38
NC_000019.9:g.42373799A>G , CM000681.1:g.42373799A>G GRCh37
NC_000019.8:g.47065639A>G NCBI36
NG_007080.2:g.14812A>G
NG_007080.3:g.14812A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001022.4:c.387A>G MANE Select NP_001013.1:p.Arg129=
ENST00000598742.6:c.387A>G MANE Select ENSP00000470972.1:p.Arg129=
NM_001022.3:c.387A>G NP_001013.1:p.Arg129=
NM_001321483.1:c.387A>G NP_001308412.1:p.Arg129=
NM_001321483.2:c.387A>G NP_001308412.1:p.Arg129=
NM_001321484.1:c.387A>G NP_001308413.1:p.Arg129=
NM_001321484.2:c.387A>G NP_001308413.1:p.Arg129=
NM_001321485.1:c.400A>G NP_001308414.1:p.Arg134Gly
NM_001321485.2:c.400A>G NP_001308414.1:p.Arg134Gly
ENST00000221975.6:c.165A>G ENSP00000221975.2:p.Arg55=
ENST00000593863.5:c.387A>G ENSP00000470004.1:p.Arg129=
ENST00000598742.5:c.387A>G ENSP00000470972.1:p.Arg129=
ENST00000600467.6:c.387A>G ENSP00000469228.2:p.Arg129=
XM_017027113.2:c.387A>G XP_016882602.1:p.Arg129=