Canonical Allele Identifier: CA16603697

Gene: YARS1

Linked Data

• ClinVar Variation Id: 392105
• ClinVar RCV Id: RCV000429196 ; RCV001314129 ; RCV002461183
• dbSNP Id: rs1057524362
• gnomAD v2: 1-33245866-T-G
• gnomAD v3: 1-32780265-T-G
• gnomAD v4: 1-32780265-T-G
• MyVariant Identifiers: chr1:g.33245866T>G (hg19) ; chr1:g.32780265T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780265T>G , CM000663.2:g.32780265T>G	GRCh38
NC_000001.10:g.33245866T>G , CM000663.1:g.33245866T>G	GRCh37
NC_000001.9:g.33018453T>G	NCBI36
NG_008408.1:g.42768A>C , LRG_273:g.42768A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1007A>C	ENSP00000502019.1:p.Asp336Ala
ENST00000373477.9:c.1154A>C MANE Select	ENSP00000362576.4:p.Asp385Ala
ENST00000674629.1:c.*702A>C	ENSP00000502470.1:n.*702A>C
ENST00000674654.1:c.*1114A>C	ENSP00000501729.1:n.*1114A>C
ENST00000675785.1:c.1007A>C	ENSP00000502019.1:p.Asp336Ala
ENST00000676297.1:c.*1328A>C	ENSP00000501596.1:n.*1328A>C
ENST00000373477.8:c.1154A>C	ENSP00000362576.4:p.Asp385Ala
ENST00000469100.5:n.1070A>C
ENST00000478828.1:n.621A>C
ENST00000487404.5:n.1464A>C
ENST00000490826.1:n.447A>C
ENST00000616261.1:c.1153A>C	ENSP00000484192.1:p.Thr385Pro
NM_003680.3:c.1154A>C , LRG_273t1:c.1154A>C	NP_003671.1:p.Asp385Ala
XM_011542347.1:c.524A>C	XP_011540649.1:p.Asp175Ala
XM_011542348.1:c.524A>C	XP_011540650.1:p.Asp175Ala
XM_011542347.2:c.524A>C	XP_011540649.1:p.Asp175Ala
XM_017002651.2:c.524A>C	XP_016858140.1:p.Asp175Ala
NM_003680.4:c.1154A>C MANE Select	NP_003671.1:p.Asp385Ala