Canonical Allele Identifier: CA745261

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1947065
• ClinVar RCV Id: RCV002654192
• dbSNP Id: rs372773941
• ExAC: 1:33276496 T / G
• gnomAD v3: 1-32810895-T-G
• gnomAD v4: 1-32810895-T-G
• MyVariant Identifiers: chr1:g.33276496T>G (hg19) ; chr1:g.32810895T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32810895T>G , CM000663.2:g.32810895T>G	GRCh38
NC_000001.10:g.33276496T>G , CM000663.1:g.33276496T>G	GRCh37
NC_000001.9:g.33049083T>G	NCBI36
NG_008408.1:g.12138A>C , LRG_273:g.12138A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.58-129A>C	ENSP00000502019.1:n.58-129A>C
ENST00000373477.9:c.204+16A>C MANE Select	ENSP00000362576.4:n.204+16A>C
ENST00000481895.6:c.204+16A>C	ENSP00000502016.1:n.204+16A>C
ENST00000616261.2:c.204+16A>C	ENSP00000484192.2:n.204+16A>C
ENST00000674629.1:c.58-4284A>C	ENSP00000502470.1:n.58-4284A>C
ENST00000674654.1:c.204+16A>C	ENSP00000501729.1:n.204+16A>C
ENST00000675785.1:c.58-129A>C	ENSP00000502019.1:n.58-129A>C
ENST00000676297.1:c.204+16A>C	ENSP00000501596.1:n.204+16A>C
ENST00000373477.8:c.204+16A>C	ENSP00000362576.4:n.204+16A>C
ENST00000472692.1:n.737+16A>C
ENST00000481895.5:n.277+16A>C
ENST00000616261.1:c.204+16A>C	ENSP00000484192.1:n.204+16A>C
NM_003680.3:c.204+16A>C , LRG_273t1:c.204+16A>C	NP_003671.1:n.204+16A>C
XM_011542347.1:c.-250-4284A>C	XP_011540649.1:n.-250-4284A>C
XM_011542348.1:c.-297-4284A>C	XP_011540650.1:n.-297-4284A>C
XM_011542347.2:c.-250-4284A>C	XP_011540649.1:n.-250-4284A>C
XM_017002651.2:c.-474+16A>C	XP_016858140.1:n.-474+16A>C
NM_003680.4:c.204+16A>C MANE Select	NP_003671.1:n.204+16A>C