Canonical Allele Identifier: CA744951

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1942992
• ClinVar RCV Id: RCV002647086
• dbSNP Id: rs189171835
• ExAC: 1:33245796 C / T
• gnomAD v2: 1-33245796-C-T
• gnomAD v3: 1-32780195-C-T
• gnomAD v4: 1-32780195-C-T
• MyVariant Identifiers: chr1:g.33245796C>T (hg19) ; chr1:g.32780195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780195C>T , CM000663.2:g.32780195C>T	GRCh38
NC_000001.10:g.33245796C>T , CM000663.1:g.33245796C>T	GRCh37
NC_000001.9:g.33018383C>T	NCBI36
NG_008408.1:g.42838G>A , LRG_273:g.42838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1077G>A	ENSP00000502019.1:p.Gln359=
ENST00000373477.9:c.1224G>A MANE Select	ENSP00000362576.4:p.Gln408=
ENST00000674629.1:c.*772G>A	ENSP00000502470.1:n.*772G>A
ENST00000674654.1:c.*1184G>A	ENSP00000501729.1:n.*1184G>A
ENST00000675785.1:c.1077G>A	ENSP00000502019.1:p.Gln359=
ENST00000676297.1:c.*1398G>A	ENSP00000501596.1:n.*1398G>A
ENST00000373477.8:c.1224G>A	ENSP00000362576.4:p.Gln408=
ENST00000469100.5:n.1140G>A
ENST00000478828.1:n.691G>A
ENST00000487404.5:n.1534G>A
ENST00000490826.1:n.517G>A
NM_003680.3:c.1224G>A , LRG_273t1:c.1224G>A	NP_003671.1:p.Gln408=
XM_011542347.1:c.594G>A	XP_011540649.1:p.Gln198=
XM_011542348.1:c.594G>A	XP_011540650.1:p.Gln198=
XM_011542347.2:c.594G>A	XP_011540649.1:p.Gln198=
XM_017002651.2:c.594G>A	XP_016858140.1:p.Gln198=
NM_003680.4:c.1224G>A MANE Select	NP_003671.1:p.Gln408=