Canonical Allele Identifier: CA744953

Gene: YARS1

Linked Data

• ClinVar Variation Id: 696443
• ClinVar RCV Id: RCV001481217
• dbSNP Id: rs778469199
• ExAC: 1:33245808 G / A
• gnomAD v2: 1-33245808-G-A
• gnomAD v3: 1-32780207-G-A
• gnomAD v4: 1-32780207-G-A
• MyVariant Identifiers: chr1:g.33245808G>A (hg19) ; chr1:g.32780207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780207G>A , CM000663.2:g.32780207G>A	GRCh38
NC_000001.10:g.33245808G>A , CM000663.1:g.33245808G>A	GRCh37
NC_000001.9:g.33018395G>A	NCBI36
NG_008408.1:g.42826C>T , LRG_273:g.42826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1065C>T	ENSP00000502019.1:p.Ser355=
ENST00000373477.9:c.1212C>T MANE Select	ENSP00000362576.4:p.Ser404=
ENST00000674629.1:c.*760C>T	ENSP00000502470.1:n.*760C>T
ENST00000674654.1:c.*1172C>T	ENSP00000501729.1:n.*1172C>T
ENST00000675785.1:c.1065C>T	ENSP00000502019.1:p.Ser355=
ENST00000676297.1:c.*1386C>T	ENSP00000501596.1:n.*1386C>T
ENST00000373477.8:c.1212C>T	ENSP00000362576.4:p.Ser404=
ENST00000469100.5:n.1128C>T
ENST00000478828.1:n.679C>T
ENST00000487404.5:n.1522C>T
ENST00000490826.1:n.505C>T
NM_003680.3:c.1212C>T , LRG_273t1:c.1212C>T	NP_003671.1:p.Ser404=
XM_011542347.1:c.582C>T	XP_011540649.1:p.Ser194=
XM_011542348.1:c.582C>T	XP_011540650.1:p.Ser194=
XM_011542347.2:c.582C>T	XP_011540649.1:p.Ser194=
XM_017002651.2:c.582C>T	XP_016858140.1:p.Ser194=
NM_003680.4:c.1212C>T MANE Select	NP_003671.1:p.Ser404=