Canonical Allele Identifier: CA406047070
Community Standard Title: NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
Gene: RPS19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41861180C>T , CM000681.2:g.41861180C>T GRCh38
NC_000019.9:g.42365249C>T , CM000681.1:g.42365249C>T GRCh37
NC_000019.8:g.47057089C>T NCBI36
NG_007080.2:g.6262C>T
NG_007080.3:g.6263C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001022.4:c.140C>T MANE Select NP_001013.1:p.Pro47Leu
ENST00000598742.6:c.140C>T MANE Select ENSP00000470972.1:p.Pro47Leu
NM_001022.3:c.140C>T NP_001013.1:p.Pro47Leu
NM_001321483.1:c.140C>T NP_001308412.1:p.Pro47Leu
NM_001321483.2:c.140C>T NP_001308412.1:p.Pro47Leu
NM_001321484.1:c.140C>T NP_001308413.1:p.Pro47Leu
NM_001321484.2:c.140C>T NP_001308413.1:p.Pro47Leu
NM_001321485.1:c.140C>T NP_001308414.1:p.Pro47Leu
NM_001321485.2:c.140C>T NP_001308414.1:p.Pro47Leu
ENST00000221975.6:c.-83C>T ENSP00000221975.2:n.-83C>T
ENST00000593863.5:c.140C>T ENSP00000470004.1:p.Pro47Leu
ENST00000598261.1:c.140C>T ENSP00000469798.1:p.Pro47Leu
ENST00000598261.2:c.140C>T ENSP00000469798.1:p.Pro47Leu
ENST00000598399.1:c.137C>T ENSP00000472660.1:p.Pro46Leu
ENST00000598466.5:n.175C>T
ENST00000598742.5:c.140C>T ENSP00000470972.1:p.Pro47Leu
ENST00000600467.5:c.140C>T ENSP00000469228.1:p.Pro47Leu
ENST00000600467.6:c.140C>T ENSP00000469228.2:p.Pro47Leu
ENST00000601492.5:c.140C>T ENSP00000471621.1:p.Pro47Leu
XM_017027113.2:c.140C>T XP_016882602.1:p.Pro47Leu