Canonical Allele Identifier: CA745321

Gene: YARS1 S100PBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32817205T>A , CM000663.2:g.32817205T>A	GRCh38
NC_000001.10:g.33282806T>A , CM000663.1:g.33282806T>A	GRCh37
NC_000001.9:g.33055393T>A	NCBI36
NG_008408.1:g.5828A>T , LRG_273:g.5828A>T
NG_031988.1:g.4764T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.40A>T (YARS1) MANE Select	NP_003671.1:p.Ile14Phe
ENST00000373477.9:c.40A>T (YARS1) MANE Select	ENSP00000362576.4:p.Ile14Phe
NM_003680.3:c.40A>T , LRG_273t1:c.40A>T (YARS1)	NP_003671.1:p.Ile14Phe
ENST00000373477.8:c.40A>T (YARS1)	ENSP00000362576.4:p.Ile14Phe
ENST00000481895.5:n.113A>T (YARS1)
ENST00000481895.6:c.40A>T (YARS1)	ENSP00000502016.1:p.Ile14Phe
ENST00000530710.5:c.-120+223T>A (S100PBP)	ENSP00000434933.1:n.-120+223T>A
ENST00000616261.1:c.40A>T (YARS1)	ENSP00000484192.1:p.Ile14Phe
ENST00000616261.2:c.40A>T (YARS1)	ENSP00000484192.2:p.Ile14Phe
ENST00000674629.1:c.40A>T (YARS1)	ENSP00000502470.1:p.Ile14Phe
ENST00000674654.1:c.40A>T (YARS1)	ENSP00000501729.1:p.Ile14Phe
ENST00000675785.1:c.40A>T (YARS1)	ENSP00000502019.1:p.Ile14Phe
ENST00000675785.2:c.40A>T (YARS1)	ENSP00000502019.1:p.Ile14Phe
ENST00000676297.1:c.40A>T (YARS1)	ENSP00000501596.1:p.Ile14Phe
XM_011541962.1:c.-120+223T>A (S100PBP)	XP_011540264.1:n.-120+223T>A
XM_011541962.2:c.-120+223T>A (S100PBP)	XP_011540264.1:n.-120+223T>A
XM_011542347.1:c.-268A>T (YARS1)	XP_011540649.1:n.-268A>T
XM_011542347.2:c.-268A>T (YARS1)	XP_011540649.1:n.-268A>T
XM_011542348.1:c.-315A>T (YARS1)	XP_011540650.1:n.-315A>T
XM_017002651.2:c.-638A>T (YARS1)	XP_016858140.1:n.-638A>T