Canonical Allele Identifier: CA3549911
Gene: RARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265854
dbSNP Id: rs139644798
COSMIC: COSM207783

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.168510601C>T , CM000667.2:g.168510601C>T GRCh38
NC_000005.9:g.167937606C>T , CM000667.1:g.167937606C>T GRCh37
NC_000005.8:g.167870184C>T NCBI36
NG_041809.1:g.29144C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000231572.8:c.1367C>T MANE Select ENSP00000231572.3:p.Ser456Leu
ENST00000231572.7:c.1367C>T ENSP00000231572.3:p.Ser456Leu
ENST00000520013.5:c.*868C>T ENSP00000429030.1:n.*868C>T
NM_002887.3:c.1367C>T NP_002878.2:p.Ser456Leu
NM_002887.4:c.1367C>T MANE Select NP_002878.2:p.Ser456Leu