Canonical Allele Identifier: CA339681555

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245781C>G (hg19) ; chr1:g.32780180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780180C>G , CM000663.2:g.32780180C>G	GRCh38
NC_000001.10:g.33245781C>G , CM000663.1:g.33245781C>G	GRCh37
NC_000001.9:g.33018368C>G	NCBI36
NG_008408.1:g.42853G>C , LRG_273:g.42853G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1092G>C	ENSP00000502019.1:p.Glu364Asp
ENST00000373477.9:c.1239G>C MANE Select	ENSP00000362576.4:p.Glu413Asp
ENST00000674629.1:c.*787G>C	ENSP00000502470.1:n.*787G>C
ENST00000674654.1:c.*1199G>C	ENSP00000501729.1:n.*1199G>C
ENST00000675785.1:c.1092G>C	ENSP00000502019.1:p.Glu364Asp
ENST00000676297.1:c.*1413G>C	ENSP00000501596.1:n.*1413G>C
ENST00000373477.8:c.1239G>C	ENSP00000362576.4:p.Glu413Asp
ENST00000469100.5:n.1155G>C
ENST00000478828.1:n.706G>C
ENST00000487404.5:n.1549G>C
ENST00000490826.1:n.532G>C
NM_003680.3:c.1239G>C , LRG_273t1:c.1239G>C	NP_003671.1:p.Glu413Asp
XM_011542347.1:c.609G>C	XP_011540649.1:p.Glu203Asp
XM_011542348.1:c.609G>C	XP_011540650.1:p.Glu203Asp
XM_011542347.2:c.609G>C	XP_011540649.1:p.Glu203Asp
XM_017002651.2:c.609G>C	XP_016858140.1:p.Glu203Asp
NM_003680.4:c.1239G>C MANE Select	NP_003671.1:p.Glu413Asp