Canonical Allele Identifier: CA417064353

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780186-G-A
• MyVariant Identifiers: chr1:g.33245787G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780186G>A , CM000663.2:g.32780186G>A	GRCh38
NC_000001.10:g.33245787G>A , CM000663.1:g.33245787G>A	GRCh37
NC_000001.9:g.33018374G>A	NCBI36
NG_008408.1:g.42847C>T , LRG_273:g.42847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1086C>T	ENSP00000502019.1:p.Pro362=
ENST00000373477.9:c.1233C>T MANE Select	ENSP00000362576.4:p.Pro411=
ENST00000674629.1:c.*781C>T	ENSP00000502470.1:n.*781C>T
ENST00000674654.1:c.*1193C>T	ENSP00000501729.1:n.*1193C>T
ENST00000675785.1:c.1086C>T	ENSP00000502019.1:p.Pro362=
ENST00000676297.1:c.*1407C>T	ENSP00000501596.1:n.*1407C>T
ENST00000373477.8:c.1233C>T	ENSP00000362576.4:p.Pro411=
ENST00000469100.5:n.1149C>T
ENST00000478828.1:n.700C>T
ENST00000487404.5:n.1543C>T
ENST00000490826.1:n.526C>T
NM_003680.3:c.1233C>T , LRG_273t1:c.1233C>T	NP_003671.1:p.Pro411=
XM_011542347.1:c.603C>T	XP_011540649.1:p.Pro201=
XM_011542348.1:c.603C>T	XP_011540650.1:p.Pro201=
XM_011542347.2:c.603C>T	XP_011540649.1:p.Pro201=
XM_017002651.2:c.603C>T	XP_016858140.1:p.Pro201=
NM_003680.4:c.1233C>T MANE Select	NP_003671.1:p.Pro411=