Canonical Allele Identifier: CA339687723

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33276601A>C (hg19) ; chr1:g.32811000A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32811000A>C , CM000663.2:g.32811000A>C	GRCh38
NC_000001.10:g.33276601A>C , CM000663.1:g.33276601A>C	GRCh37
NC_000001.9:g.33049188A>C	NCBI36
NG_008408.1:g.12033T>G , LRG_273:g.12033T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.58-234T>G	ENSP00000502019.1:n.58-234T>G
ENST00000373477.9:c.115T>G MANE Select	ENSP00000362576.4:p.Tyr39Asp
ENST00000481895.6:c.115T>G	ENSP00000502016.1:p.Tyr39Asp
ENST00000616261.2:c.115T>G	ENSP00000484192.2:p.Tyr39Asp
ENST00000674629.1:c.58-4389T>G	ENSP00000502470.1:n.58-4389T>G
ENST00000674654.1:c.115T>G	ENSP00000501729.1:p.Tyr39Asp
ENST00000675785.1:c.58-234T>G	ENSP00000502019.1:n.58-234T>G
ENST00000676297.1:c.115T>G	ENSP00000501596.1:p.Tyr39Asp
ENST00000373477.8:c.115T>G	ENSP00000362576.4:p.Tyr39Asp
ENST00000472692.1:n.648T>G
ENST00000481895.5:n.188T>G
ENST00000616261.1:c.115T>G	ENSP00000484192.1:p.Tyr39Asp
NM_003680.3:c.115T>G , LRG_273t1:c.115T>G	NP_003671.1:p.Tyr39Asp
XM_011542347.1:c.-250-4389T>G	XP_011540649.1:n.-250-4389T>G
XM_011542348.1:c.-297-4389T>G	XP_011540650.1:n.-297-4389T>G
XM_011542347.2:c.-250-4389T>G	XP_011540649.1:n.-250-4389T>G
XM_017002651.2:c.-563T>G	XP_016858140.1:n.-563T>G
NM_003680.4:c.115T>G MANE Select	NP_003671.1:p.Tyr39Asp