Canonical Allele Identifier: CA745282

Gene: YARS1

Linked Data

• dbSNP Id: rs757914336
• ExAC: 1:33276608 A / G
• gnomAD v4: 1-32811007-A-G
• MyVariant Identifiers: chr1:g.33276608A>G (hg19) ; chr1:g.32811007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32811007A>G , CM000663.2:g.32811007A>G	GRCh38
NC_000001.10:g.33276608A>G , CM000663.1:g.33276608A>G	GRCh37
NC_000001.9:g.33049195A>G	NCBI36
NG_008408.1:g.12026T>C , LRG_273:g.12026T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.58-241T>C	ENSP00000502019.1:n.58-241T>C
ENST00000373477.9:c.108T>C MANE Select	ENSP00000362576.4:p.Leu36=
ENST00000481895.6:c.108T>C	ENSP00000502016.1:p.Leu36=
ENST00000616261.2:c.108T>C	ENSP00000484192.2:p.Leu36=
ENST00000674629.1:c.58-4396T>C	ENSP00000502470.1:n.58-4396T>C
ENST00000674654.1:c.108T>C	ENSP00000501729.1:p.Leu36=
ENST00000675785.1:c.58-241T>C	ENSP00000502019.1:n.58-241T>C
ENST00000676297.1:c.108T>C	ENSP00000501596.1:p.Leu36=
ENST00000373477.8:c.108T>C	ENSP00000362576.4:p.Leu36=
ENST00000472692.1:n.641T>C
ENST00000481895.5:n.181T>C
ENST00000616261.1:c.108T>C	ENSP00000484192.1:p.Leu36=
NM_003680.3:c.108T>C , LRG_273t1:c.108T>C	NP_003671.1:p.Leu36=
XM_011542347.1:c.-250-4396T>C	XP_011540649.1:n.-250-4396T>C
XM_011542348.1:c.-297-4396T>C	XP_011540650.1:n.-297-4396T>C
XM_011542347.2:c.-250-4396T>C	XP_011540649.1:n.-250-4396T>C
XM_017002651.2:c.-570T>C	XP_016858140.1:n.-570T>C
NM_003680.4:c.108T>C MANE Select	NP_003671.1:p.Leu36=