Canonical Allele Identifier: CA339686417

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32791226C>G , CM000663.2:g.32791226C>G	GRCh38
NC_000001.10:g.33256827C>G , CM000663.1:g.33256827C>G	GRCh37
NC_000001.9:g.33029414C>G	NCBI36
NG_008408.1:g.31807G>C , LRG_273:g.31807G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.620G>C MANE Select	NP_003671.1:p.Arg207Pro
ENST00000373477.9:c.620G>C MANE Select	ENSP00000362576.4:p.Arg207Pro
NM_003680.3:c.620G>C , LRG_273t1:c.620G>C	NP_003671.1:p.Arg207Pro
ENST00000373477.8:c.620G>C	ENSP00000362576.4:p.Arg207Pro
ENST00000466052.1:n.528G>C
ENST00000470377.1:n.209G>C
ENST00000481895.5:n.740G>C
ENST00000481895.6:c.*454-3845G>C	ENSP00000502016.1:n.*454-3845G>C
ENST00000616261.1:c.620G>C	ENSP00000484192.1:p.Arg207Pro
ENST00000616261.2:c.667G>C	ENSP00000484192.2:p.Gly223Arg
ENST00000674629.1:c.*168G>C	ENSP00000502470.1:n.*168G>C
ENST00000674654.1:c.*88G>C	ENSP00000501729.1:n.*88G>C
ENST00000675785.1:c.473G>C	ENSP00000502019.1:p.Arg158Pro
ENST00000675785.2:c.473G>C	ENSP00000502019.1:p.Arg158Pro
ENST00000676297.1:c.*302G>C	ENSP00000501596.1:n.*302G>C
XM_011542347.1:c.-11G>C	XP_011540649.1:n.-11G>C
XM_011542347.2:c.-11G>C	XP_011540649.1:n.-11G>C
XM_011542348.1:c.-11G>C	XP_011540650.1:n.-11G>C
XM_017002651.2:c.-11G>C	XP_016858140.1:n.-11G>C