Canonical Allele Identifier: CA118052

Gene: YARS1

Linked Data

• ClinVar Variation Id: 6188
• ClinVar RCV Id: RCV000006565 ; RCV000789620
• dbSNP Id: rs121908833
• MyVariant Identifiers: chr1:g.33276595C>T (hg19) ; chr1:g.32810994C>T (hg38)
• PubMed: PMID:14606043 ; PMID:16429158

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32810994C>T , CM000663.2:g.32810994C>T	GRCh38
NC_000001.10:g.33276595C>T , CM000663.1:g.33276595C>T	GRCh37
NC_000001.9:g.33049182C>T	NCBI36
NG_008408.1:g.12039G>A , LRG_273:g.12039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.58-228G>A	ENSP00000502019.1:n.58-228G>A
ENST00000373477.9:c.121G>A MANE Select	ENSP00000362576.4:p.Gly41Arg
ENST00000481895.6:c.121G>A	ENSP00000502016.1:p.Gly41Arg
ENST00000616261.2:c.121G>A	ENSP00000484192.2:p.Gly41Arg
ENST00000674629.1:c.58-4383G>A	ENSP00000502470.1:n.58-4383G>A
ENST00000674654.1:c.121G>A	ENSP00000501729.1:p.Gly41Arg
ENST00000675785.1:c.58-228G>A	ENSP00000502019.1:n.58-228G>A
ENST00000676297.1:c.121G>A	ENSP00000501596.1:p.Gly41Arg
ENST00000373477.8:c.121G>A	ENSP00000362576.4:p.Gly41Arg
ENST00000472692.1:n.654G>A
ENST00000481895.5:n.194G>A
ENST00000616261.1:c.121G>A	ENSP00000484192.1:p.Gly41Arg
NM_003680.3:c.121G>A , LRG_273t1:c.121G>A	NP_003671.1:p.Gly41Arg
XM_011542347.1:c.-250-4383G>A	XP_011540649.1:n.-250-4383G>A
XM_011542348.1:c.-297-4383G>A	XP_011540650.1:n.-297-4383G>A
XM_011542347.2:c.-250-4383G>A	XP_011540649.1:n.-250-4383G>A
XM_017002651.2:c.-557G>A	XP_016858140.1:n.-557G>A
NM_003680.4:c.121G>A MANE Select	NP_003671.1:p.Gly41Arg