Canonical Allele Identifier: CA2644702552

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780379-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780379G>A , CM000663.2:g.32780379G>A	GRCh38
NC_000001.10:g.33245980G>A , CM000663.1:g.33245980G>A	GRCh37
NC_000001.9:g.33018567G>A	NCBI36
NG_008408.1:g.42654C>T , LRG_273:g.42654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.994-101C>T	ENSP00000502019.1:n.994-101C>T
ENST00000373477.9:c.1141-101C>T MANE Select	ENSP00000362576.4:n.1141-101C>T
ENST00000674629.1:c.*689-101C>T	ENSP00000502470.1:n.*689-101C>T
ENST00000674654.1:c.*1101-101C>T	ENSP00000501729.1:n.*1101-101C>T
ENST00000675785.1:c.994-101C>T	ENSP00000502019.1:n.994-101C>T
ENST00000676297.1:c.*1315-101C>T	ENSP00000501596.1:n.*1315-101C>T
ENST00000373477.8:c.1141-101C>T	ENSP00000362576.4:n.1141-101C>T
ENST00000469100.5:n.1057-101C>T
ENST00000478828.1:n.608-101C>T
ENST00000487404.5:n.1451-101C>T
ENST00000490826.1:n.333C>T
ENST00000616261.1:c.1140-101C>T	ENSP00000484192.1:n.1140-101C>T
NM_003680.3:c.1141-101C>T , LRG_273t1:c.1141-101C>T	NP_003671.1:n.1141-101C>T
XM_011542347.1:c.511-101C>T	XP_011540649.1:n.511-101C>T
XM_011542348.1:c.511-101C>T	XP_011540650.1:n.511-101C>T
XM_011542347.2:c.511-101C>T	XP_011540649.1:n.511-101C>T
XM_017002651.2:c.511-101C>T	XP_016858140.1:n.511-101C>T
NM_003680.4:c.1141-101C>T MANE Select	NP_003671.1:n.1141-101C>T