Canonical Allele Identifier: CA20274007

Gene: YARS1

Linked Data

• dbSNP Id: rs552964149
• gnomAD v3: 1-32780337-T-G
• gnomAD v4: 1-32780337-T-G
• MyVariant Identifiers: chr1:g.33245938T>G (hg19) ; chr1:g.32780337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780337T>G , CM000663.2:g.32780337T>G	GRCh38
NC_000001.10:g.33245938T>G , CM000663.1:g.33245938T>G	GRCh37
NC_000001.9:g.33018525T>G	NCBI36
NG_008408.1:g.42696A>C , LRG_273:g.42696A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.994-59A>C	ENSP00000502019.1:n.994-59A>C
ENST00000373477.9:c.1141-59A>C MANE Select	ENSP00000362576.4:n.1141-59A>C
ENST00000674629.1:c.*689-59A>C	ENSP00000502470.1:n.*689-59A>C
ENST00000674654.1:c.*1101-59A>C	ENSP00000501729.1:n.*1101-59A>C
ENST00000675785.1:c.994-59A>C	ENSP00000502019.1:n.994-59A>C
ENST00000676297.1:c.*1315-59A>C	ENSP00000501596.1:n.*1315-59A>C
ENST00000373477.8:c.1141-59A>C	ENSP00000362576.4:n.1141-59A>C
ENST00000469100.5:n.1057-59A>C
ENST00000478828.1:n.608-59A>C
ENST00000487404.5:n.1451-59A>C
ENST00000490826.1:n.375A>C
ENST00000616261.1:c.1140-59A>C	ENSP00000484192.1:n.1140-59A>C
NM_003680.3:c.1141-59A>C , LRG_273t1:c.1141-59A>C	NP_003671.1:n.1141-59A>C
XM_011542347.1:c.511-59A>C	XP_011540649.1:n.511-59A>C
XM_011542348.1:c.511-59A>C	XP_011540650.1:n.511-59A>C
XM_011542347.2:c.511-59A>C	XP_011540649.1:n.511-59A>C
XM_017002651.2:c.511-59A>C	XP_016858140.1:n.511-59A>C
NM_003680.4:c.1141-59A>C MANE Select	NP_003671.1:n.1141-59A>C