Canonical Allele Identifier: CA522246379

Gene: YARS1

Linked Data

• dbSNP Id: rs1197254699
• gnomAD v2: 1-33246000-A-G
• MyVariant Identifiers: chr1:g.33246000A>G (hg19) ; chr1:g.32780399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780399A>G , CM000663.2:g.32780399A>G	GRCh38
NC_000001.10:g.33246000A>G , CM000663.1:g.33246000A>G	GRCh37
NC_000001.9:g.33018587A>G	NCBI36
NG_008408.1:g.42634T>C , LRG_273:g.42634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.994-121T>C	ENSP00000502019.1:n.994-121T>C
ENST00000373477.9:c.1141-121T>C MANE Select	ENSP00000362576.4:n.1141-121T>C
ENST00000674629.1:c.*689-121T>C	ENSP00000502470.1:n.*689-121T>C
ENST00000674654.1:c.*1101-121T>C	ENSP00000501729.1:n.*1101-121T>C
ENST00000675785.1:c.994-121T>C	ENSP00000502019.1:n.994-121T>C
ENST00000676297.1:c.*1315-121T>C	ENSP00000501596.1:n.*1315-121T>C
ENST00000373477.8:c.1141-121T>C	ENSP00000362576.4:n.1141-121T>C
ENST00000469100.5:n.1057-121T>C
ENST00000478828.1:n.608-121T>C
ENST00000487404.5:n.1451-121T>C
ENST00000490826.1:n.313T>C
ENST00000616261.1:c.1140-121T>C	ENSP00000484192.1:n.1140-121T>C
NM_003680.3:c.1141-121T>C , LRG_273t1:c.1141-121T>C	NP_003671.1:n.1141-121T>C
XM_011542347.1:c.511-121T>C	XP_011540649.1:n.511-121T>C
XM_011542348.1:c.511-121T>C	XP_011540650.1:n.511-121T>C
XM_011542347.2:c.511-121T>C	XP_011540649.1:n.511-121T>C
XM_017002651.2:c.511-121T>C	XP_016858140.1:n.511-121T>C
NM_003680.4:c.1141-121T>C MANE Select	NP_003671.1:n.1141-121T>C