Canonical Allele Identifier: CA417071934

Gene: YARS1 S100PBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32817200G>A , CM000663.2:g.32817200G>A	GRCh38
NC_000001.10:g.33282801G>A , CM000663.1:g.33282801G>A	GRCh37
NC_000001.9:g.33055388G>A	NCBI36
NG_008408.1:g.5833C>T , LRG_273:g.5833C>T
NG_031988.1:g.4759G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.45C>T (YARS1) MANE Select	NP_003671.1:p.Thr15=
ENST00000373477.9:c.45C>T (YARS1) MANE Select	ENSP00000362576.4:p.Thr15=
NM_003680.3:c.45C>T , LRG_273t1:c.45C>T (YARS1)	NP_003671.1:p.Thr15=
ENST00000373477.8:c.45C>T (YARS1)	ENSP00000362576.4:p.Thr15=
ENST00000481895.5:n.118C>T (YARS1)
ENST00000481895.6:c.45C>T (YARS1)	ENSP00000502016.1:p.Thr15=
ENST00000530710.5:c.-120+218G>A (S100PBP)	ENSP00000434933.1:n.-120+218G>A
ENST00000616261.1:c.45C>T (YARS1)	ENSP00000484192.1:p.Thr15=
ENST00000616261.2:c.45C>T (YARS1)	ENSP00000484192.2:p.Thr15=
ENST00000674629.1:c.45C>T (YARS1)	ENSP00000502470.1:p.Thr15=
ENST00000674654.1:c.45C>T (YARS1)	ENSP00000501729.1:p.Thr15=
ENST00000675785.1:c.45C>T (YARS1)	ENSP00000502019.1:p.Thr15=
ENST00000675785.2:c.45C>T (YARS1)	ENSP00000502019.1:p.Thr15=
ENST00000676297.1:c.45C>T (YARS1)	ENSP00000501596.1:p.Thr15=
XM_011541962.1:c.-120+218G>A (S100PBP)	XP_011540264.1:n.-120+218G>A
XM_011541962.2:c.-120+218G>A (S100PBP)	XP_011540264.1:n.-120+218G>A
XM_011542347.1:c.-263C>T (YARS1)	XP_011540649.1:n.-263C>T
XM_011542347.2:c.-263C>T (YARS1)	XP_011540649.1:n.-263C>T
XM_011542348.1:c.-310C>T (YARS1)	XP_011540650.1:n.-310C>T
XM_017002651.2:c.-633C>T (YARS1)	XP_016858140.1:n.-633C>T