Canonical Allele Identifier: CA339688149

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33276656C>A (hg19) ; chr1:g.32811055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32811055C>A , CM000663.2:g.32811055C>A	GRCh38
NC_000001.10:g.33276656C>A , CM000663.1:g.33276656C>A	GRCh37
NC_000001.9:g.33049243C>A	NCBI36
NG_008408.1:g.11978G>T , LRG_273:g.11978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.58-289G>T	ENSP00000502019.1:n.58-289G>T
ENST00000373477.9:c.60G>T MANE Select	ENSP00000362576.4:p.Glu20Asp
ENST00000481895.6:c.60G>T	ENSP00000502016.1:p.Glu20Asp
ENST00000616261.2:c.60G>T	ENSP00000484192.2:p.Glu20Asp
ENST00000674629.1:c.58-4444G>T	ENSP00000502470.1:n.58-4444G>T
ENST00000674654.1:c.60G>T	ENSP00000501729.1:p.Glu20Asp
ENST00000675785.1:c.58-289G>T	ENSP00000502019.1:n.58-289G>T
ENST00000676297.1:c.60G>T	ENSP00000501596.1:p.Glu20Asp
ENST00000373477.8:c.60G>T	ENSP00000362576.4:p.Glu20Asp
ENST00000472692.1:n.593G>T
ENST00000481895.5:n.133G>T
ENST00000616261.1:c.60G>T	ENSP00000484192.1:p.Glu20Asp
NM_003680.3:c.60G>T , LRG_273t1:c.60G>T	NP_003671.1:p.Glu20Asp
XM_011542347.1:c.-250-4444G>T	XP_011540649.1:n.-250-4444G>T
XM_011542348.1:c.-297-4444G>T	XP_011540650.1:n.-297-4444G>T
XM_011542347.2:c.-250-4444G>T	XP_011540649.1:n.-250-4444G>T
XM_017002651.2:c.-618G>T	XP_016858140.1:n.-618G>T
NM_003680.4:c.60G>T MANE Select	NP_003671.1:p.Glu20Asp