Canonical Allele Identifier: CA339681577

Gene: YARS1

Linked Data

• dbSNP Id: rs1653006117
• gnomAD v3: 1-32780185-T-C
• gnomAD v4: 1-32780185-T-C
• MyVariant Identifiers: chr1:g.33245786T>C (hg19) ; chr1:g.32780185T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780185T>C , CM000663.2:g.32780185T>C	GRCh38
NC_000001.10:g.33245786T>C , CM000663.1:g.33245786T>C	GRCh37
NC_000001.9:g.33018373T>C	NCBI36
NG_008408.1:g.42848A>G , LRG_273:g.42848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1087A>G	ENSP00000502019.1:p.Lys363Glu
ENST00000373477.9:c.1234A>G MANE Select	ENSP00000362576.4:p.Lys412Glu
ENST00000674629.1:c.*782A>G	ENSP00000502470.1:n.*782A>G
ENST00000674654.1:c.*1194A>G	ENSP00000501729.1:n.*1194A>G
ENST00000675785.1:c.1087A>G	ENSP00000502019.1:p.Lys363Glu
ENST00000676297.1:c.*1408A>G	ENSP00000501596.1:n.*1408A>G
ENST00000373477.8:c.1234A>G	ENSP00000362576.4:p.Lys412Glu
ENST00000469100.5:n.1150A>G
ENST00000478828.1:n.701A>G
ENST00000487404.5:n.1544A>G
ENST00000490826.1:n.527A>G
NM_003680.3:c.1234A>G , LRG_273t1:c.1234A>G	NP_003671.1:p.Lys412Glu
XM_011542347.1:c.604A>G	XP_011540649.1:p.Lys202Glu
XM_011542348.1:c.604A>G	XP_011540650.1:p.Lys202Glu
XM_011542347.2:c.604A>G	XP_011540649.1:p.Lys202Glu
XM_017002651.2:c.604A>G	XP_016858140.1:p.Lys202Glu
NM_003680.4:c.1234A>G MANE Select	NP_003671.1:p.Lys412Glu