Canonical Allele Identifier: CA174966

Gene: RARS1

Linked Data

• ClinVar Variation Id: 162081
• ClinVar RCV Id: RCV000149499
• dbSNP Id: rs672601373
• gnomAD v4: 5-168486544-G-T
• MyVariant Identifiers: chr5:g.167913549G>T (hg19) ; chr5:g.168486544G>T (hg38)
• PubMed: PMID:24777941

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.168486544G>T , CM000667.2:g.168486544G>T	GRCh38
NC_000005.9:g.167913549G>T , CM000667.1:g.167913549G>T	GRCh37
NC_000005.8:g.167846127G>T	NCBI36
NG_041809.1:g.5087G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000231572.8:c.45+1G>T MANE Select	ENSP00000231572.3:n.45+1G>T
ENST00000231572.7:c.45+1G>T	ENSP00000231572.3:n.45+1G>T
ENST00000520013.5:c.45+1G>T	ENSP00000429030.1:n.45+1G>T
ENST00000521329.5:c.45+1G>T	ENSP00000428494.1:n.45+1G>T
ENST00000521939.5:n.58+1G>T
ENST00000522834.5:c.45+1G>T	ENSP00000430035.1:n.45+1G>T
ENST00000524082.5:n.93+1G>T
ENST00000626454.1:c.45+1G>T	ENSP00000486284.1:n.45+1G>T
NM_002887.3:c.45+1G>T	NP_002878.2:n.45+1G>T
NM_002887.4:c.45+1G>T MANE Select	NP_002878.2:n.45+1G>T