Canonical Allele Identifier: CA348179

Gene: YARS1

Linked Data

• ClinVar Variation Id: 220175
• ClinVar RCV Id: RCV000203886 ; RCV000523644 ; RCV003165493
• dbSNP Id: rs201687117
• ExAC: 1:33241598 C / G
• gnomAD v2: 1-33241598-C-G
• gnomAD v3: 1-32775997-C-G
• gnomAD v4: 1-32775997-C-G
• MyVariant Identifiers: chr1:g.33241598C>G (hg19) ; chr1:g.32775997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32775997C>G , CM000663.2:g.32775997C>G	GRCh38
NC_000001.10:g.33241598C>G , CM000663.1:g.33241598C>G	GRCh37
NC_000001.9:g.33014185C>G	NCBI36
NG_008408.1:g.47036G>C , LRG_273:g.47036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1424G>C	ENSP00000502019.1:p.Gly475Ala
ENST00000373477.9:c.1571G>C MANE Select	ENSP00000362576.4:p.Gly524Ala
ENST00000674629.1:c.*1119G>C	ENSP00000502470.1:n.*1119G>C
ENST00000674654.1:c.*1531G>C	ENSP00000501729.1:n.*1531G>C
ENST00000675785.1:c.1424G>C	ENSP00000502019.1:p.Gly475Ala
ENST00000676297.1:c.*1745G>C	ENSP00000501596.1:n.*1745G>C
ENST00000373477.8:c.1571G>C	ENSP00000362576.4:p.Gly524Ala
ENST00000469100.5:n.1487G>C
ENST00000478828.1:n.1038G>C
ENST00000487404.5:n.1881G>C
ENST00000490826.1:n.1425G>C
NM_003680.3:c.1571G>C , LRG_273t1:c.1571G>C	NP_003671.1:p.Gly524Ala
XM_011542347.1:c.941G>C	XP_011540649.1:p.Gly314Ala
XM_011542348.1:c.941G>C	XP_011540650.1:p.Gly314Ala
XM_011542347.2:c.941G>C	XP_011540649.1:p.Gly314Ala
XM_017002651.2:c.941G>C	XP_016858140.1:p.Gly314Ala
NM_003680.4:c.1571G>C MANE Select	NP_003671.1:p.Gly524Ala