Canonical Allele Identifier: CA339686717

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32806493G>T , CM000663.2:g.32806493G>T	GRCh38
NC_000001.10:g.33272094G>T , CM000663.1:g.33272094G>T	GRCh37
NC_000001.9:g.33044681G>T	NCBI36
NG_008408.1:g.16540C>A , LRG_273:g.16540C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.499C>A MANE Select	NP_003671.1:p.Pro167Thr
ENST00000373477.9:c.499C>A MANE Select	ENSP00000362576.4:p.Pro167Thr
NM_003680.3:c.499C>A , LRG_273t1:c.499C>A	NP_003671.1:p.Pro167Thr
ENST00000373477.8:c.499C>A	ENSP00000362576.4:p.Pro167Thr
ENST00000470377.1:n.88C>A
ENST00000481895.5:n.572C>A
ENST00000481895.6:c.499C>A	ENSP00000502016.1:p.Pro167Thr
ENST00000616261.1:c.499C>A	ENSP00000484192.1:p.Pro167Thr
ENST00000616261.2:c.499C>A	ENSP00000484192.2:p.Pro167Thr
ENST00000674629.1:c.*47C>A	ENSP00000502470.1:n.*47C>A
ENST00000674654.1:c.380+4098C>A	ENSP00000501729.1:n.380+4098C>A
ENST00000675785.1:c.352C>A	ENSP00000502019.1:p.Pro118Thr
ENST00000675785.2:c.352C>A	ENSP00000502019.1:p.Pro118Thr
ENST00000676297.1:c.499C>A	ENSP00000501596.1:p.Pro167Thr
XM_011542347.1:c.-132C>A	XP_011540649.1:n.-132C>A
XM_011542347.2:c.-132C>A	XP_011540649.1:n.-132C>A
XM_011542348.1:c.-179C>A	XP_011540650.1:n.-179C>A
XM_017002651.2:c.-179C>A	XP_016858140.1:n.-179C>A