Canonical Allele Identifier: CA339681842

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780255-A-G
• MyVariant Identifiers: chr1:g.33245856A>G (hg19) ; chr1:g.32780255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780255A>G , CM000663.2:g.32780255A>G	GRCh38
NC_000001.10:g.33245856A>G , CM000663.1:g.33245856A>G	GRCh37
NC_000001.9:g.33018443A>G	NCBI36
NG_008408.1:g.42778T>C , LRG_273:g.42778T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1017T>C	ENSP00000502019.1:p.Tyr339=
ENST00000373477.9:c.1164T>C MANE Select	ENSP00000362576.4:p.Tyr388=
ENST00000674629.1:c.*712T>C	ENSP00000502470.1:n.*712T>C
ENST00000674654.1:c.*1124T>C	ENSP00000501729.1:n.*1124T>C
ENST00000675785.1:c.1017T>C	ENSP00000502019.1:p.Tyr339=
ENST00000676297.1:c.*1338T>C	ENSP00000501596.1:n.*1338T>C
ENST00000373477.8:c.1164T>C	ENSP00000362576.4:p.Tyr388=
ENST00000469100.5:n.1080T>C
ENST00000478828.1:n.631T>C
ENST00000487404.5:n.1474T>C
ENST00000490826.1:n.457T>C
ENST00000616261.1:c.1163T>C	ENSP00000484192.1:p.Met388Thr
NM_003680.3:c.1164T>C , LRG_273t1:c.1164T>C	NP_003671.1:p.Tyr388=
XM_011542347.1:c.534T>C	XP_011540649.1:p.Tyr178=
XM_011542348.1:c.534T>C	XP_011540650.1:p.Tyr178=
XM_011542347.2:c.534T>C	XP_011540649.1:p.Tyr178=
XM_017002651.2:c.534T>C	XP_016858140.1:p.Tyr178=
NM_003680.4:c.1164T>C MANE Select	NP_003671.1:p.Tyr388=