Canonical Allele Identifier: CA744967

Gene: YARS1

Linked Data

• ClinVar Variation Id: 506903
• ClinVar RCV Id: RCV000601889 ; RCV003767470
• dbSNP Id: rs576746700
• ExAC: 1:33245894 C / T
• gnomAD v2: 1-33245894-C-T
• gnomAD v3: 1-32780293-C-T
• gnomAD v4: 1-32780293-C-T
• MyVariant Identifiers: chr1:g.33245894C>T (hg19) ; chr1:g.32780293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780293C>T , CM000663.2:g.32780293C>T	GRCh38
NC_000001.10:g.33245894C>T , CM000663.1:g.33245894C>T	GRCh37
NC_000001.9:g.33018481C>T	NCBI36
NG_008408.1:g.42740G>A , LRG_273:g.42740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.994-15G>A	ENSP00000502019.1:n.994-15G>A
ENST00000373477.9:c.1141-15G>A MANE Select	ENSP00000362576.4:n.1141-15G>A
ENST00000674629.1:c.*689-15G>A	ENSP00000502470.1:n.*689-15G>A
ENST00000674654.1:c.*1101-15G>A	ENSP00000501729.1:n.*1101-15G>A
ENST00000675785.1:c.994-15G>A	ENSP00000502019.1:n.994-15G>A
ENST00000676297.1:c.*1315-15G>A	ENSP00000501596.1:n.*1315-15G>A
ENST00000373477.8:c.1141-15G>A	ENSP00000362576.4:n.1141-15G>A
ENST00000469100.5:n.1057-15G>A
ENST00000478828.1:n.608-15G>A
ENST00000487404.5:n.1451-15G>A
ENST00000490826.1:n.419G>A
ENST00000616261.1:c.1140-15G>A	ENSP00000484192.1:n.1140-15G>A
NM_003680.3:c.1141-15G>A , LRG_273t1:c.1141-15G>A	NP_003671.1:n.1141-15G>A
XM_011542347.1:c.511-15G>A	XP_011540649.1:n.511-15G>A
XM_011542348.1:c.511-15G>A	XP_011540650.1:n.511-15G>A
XM_011542347.2:c.511-15G>A	XP_011540649.1:n.511-15G>A
XM_017002651.2:c.511-15G>A	XP_016858140.1:n.511-15G>A
NM_003680.4:c.1141-15G>A MANE Select	NP_003671.1:n.1141-15G>A