Canonical Allele Identifier: CA339685510

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32787065A>G , CM000663.2:g.32787065A>G	GRCh38
NC_000001.10:g.33252666A>G , CM000663.1:g.33252666A>G	GRCh37
NC_000001.9:g.33025253A>G	NCBI36
NG_008408.1:g.35968T>C , LRG_273:g.35968T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.695T>C MANE Select	NP_003671.1:p.Ile232Thr
ENST00000373477.9:c.695T>C MANE Select	ENSP00000362576.4:p.Ile232Thr
NM_003680.3:c.695T>C , LRG_273t1:c.695T>C	NP_003671.1:p.Ile232Thr
ENST00000373477.8:c.695T>C	ENSP00000362576.4:p.Ile232Thr
ENST00000466052.1:n.603T>C
ENST00000481895.5:n.815T>C
ENST00000481895.6:c.*770T>C	ENSP00000502016.1:n.*770T>C
ENST00000616261.1:c.695T>C	ENSP00000484192.1:p.Ile232Thr
ENST00000616261.2:c.*64T>C	ENSP00000484192.2:n.*64T>C
ENST00000674629.1:c.*243T>C	ENSP00000502470.1:n.*243T>C
ENST00000674654.1:c.*163T>C	ENSP00000501729.1:n.*163T>C
ENST00000675785.1:c.548T>C	ENSP00000502019.1:p.Ile183Thr
ENST00000675785.2:c.548T>C	ENSP00000502019.1:p.Ile183Thr
ENST00000676297.1:c.*377T>C	ENSP00000501596.1:n.*377T>C
XM_011542347.1:c.65T>C	XP_011540649.1:p.Ile22Thr
XM_011542347.2:c.65T>C	XP_011540649.1:p.Ile22Thr
XM_011542348.1:c.65T>C	XP_011540650.1:p.Ile22Thr
XM_017002651.2:c.65T>C	XP_016858140.1:p.Ile22Thr