Canonical Allele Identifier: CA339688122

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33276646C>T (hg19) ; chr1:g.32811045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32811045C>T , CM000663.2:g.32811045C>T	GRCh38
NC_000001.10:g.33276646C>T , CM000663.1:g.33276646C>T	GRCh37
NC_000001.9:g.33049233C>T	NCBI36
NG_008408.1:g.11988G>A , LRG_273:g.11988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.58-279G>A	ENSP00000502019.1:n.58-279G>A
ENST00000373477.9:c.70G>A MANE Select	ENSP00000362576.4:p.Glu24Lys
ENST00000481895.6:c.70G>A	ENSP00000502016.1:p.Glu24Lys
ENST00000616261.2:c.70G>A	ENSP00000484192.2:p.Glu24Lys
ENST00000674629.1:c.58-4434G>A	ENSP00000502470.1:n.58-4434G>A
ENST00000674654.1:c.70G>A	ENSP00000501729.1:p.Glu24Lys
ENST00000675785.1:c.58-279G>A	ENSP00000502019.1:n.58-279G>A
ENST00000676297.1:c.70G>A	ENSP00000501596.1:p.Glu24Lys
ENST00000373477.8:c.70G>A	ENSP00000362576.4:p.Glu24Lys
ENST00000472692.1:n.603G>A
ENST00000481895.5:n.143G>A
ENST00000616261.1:c.70G>A	ENSP00000484192.1:p.Glu24Lys
NM_003680.3:c.70G>A , LRG_273t1:c.70G>A	NP_003671.1:p.Glu24Lys
XM_011542347.1:c.-250-4434G>A	XP_011540649.1:n.-250-4434G>A
XM_011542348.1:c.-297-4434G>A	XP_011540650.1:n.-297-4434G>A
XM_011542347.2:c.-250-4434G>A	XP_011540649.1:n.-250-4434G>A
XM_017002651.2:c.-608G>A	XP_016858140.1:n.-608G>A
NM_003680.4:c.70G>A MANE Select	NP_003671.1:p.Glu24Lys