Canonical Allele Identifier: CA339683625

Gene: YARS1

Linked Data

• gnomAD v4: 1-32782513-A-C
• MyVariant Identifiers: chr1:g.33248114A>C (hg19) ; chr1:g.32782513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32782513A>C , CM000663.2:g.32782513A>C	GRCh38
NC_000001.10:g.33248114A>C , CM000663.1:g.33248114A>C	GRCh37
NC_000001.9:g.33020701A>C	NCBI36
NG_008408.1:g.40520T>G , LRG_273:g.40520T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.786T>G	ENSP00000502019.1:p.Asn262Lys
ENST00000373477.9:c.933T>G MANE Select	ENSP00000362576.4:p.Asn311Lys
ENST00000674629.1:c.*481T>G	ENSP00000502470.1:n.*481T>G
ENST00000674654.1:c.*893T>G	ENSP00000501729.1:n.*893T>G
ENST00000675785.1:c.786T>G	ENSP00000502019.1:p.Asn262Lys
ENST00000676297.1:c.*1107T>G	ENSP00000501596.1:n.*1107T>G
ENST00000373477.8:c.933T>G	ENSP00000362576.4:p.Asn311Lys
ENST00000478828.1:n.400T>G
ENST00000487404.5:n.1243T>G
ENST00000616261.1:c.933T>G	ENSP00000484192.1:p.Asn311Lys
NM_003680.3:c.933T>G , LRG_273t1:c.933T>G	NP_003671.1:p.Asn311Lys
XM_011542347.1:c.303T>G	XP_011540649.1:p.Asn101Lys
XM_011542348.1:c.303T>G	XP_011540650.1:p.Asn101Lys
XM_011542347.2:c.303T>G	XP_011540649.1:p.Asn101Lys
XM_017002651.2:c.303T>G	XP_016858140.1:p.Asn101Lys
NM_003680.4:c.933T>G MANE Select	NP_003671.1:p.Asn311Lys