Canonical Allele Identifier: CA522247899

Gene: YARS1

Linked Data

• dbSNP Id: rs1419050394
• gnomAD v2: 1-33276770-C-T
• gnomAD v3: 1-32811169-C-T
• gnomAD v4: 1-32811169-C-T
• MyVariant Identifiers: chr1:g.33276770C>T (hg19) ; chr1:g.32811169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32811169C>T , CM000663.2:g.32811169C>T	GRCh38
NC_000001.10:g.33276770C>T , CM000663.1:g.33276770C>T	GRCh37
NC_000001.9:g.33049357C>T	NCBI36
NG_008408.1:g.11864G>A , LRG_273:g.11864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.58-403G>A	ENSP00000502019.1:n.58-403G>A
ENST00000373477.9:c.58-112G>A MANE Select	ENSP00000362576.4:n.58-112G>A
ENST00000481895.6:c.58-112G>A	ENSP00000502016.1:n.58-112G>A
ENST00000616261.2:c.58-112G>A	ENSP00000484192.2:n.58-112G>A
ENST00000674629.1:c.58-4558G>A	ENSP00000502470.1:n.58-4558G>A
ENST00000674654.1:c.58-112G>A	ENSP00000501729.1:n.58-112G>A
ENST00000675785.1:c.58-403G>A	ENSP00000502019.1:n.58-403G>A
ENST00000676297.1:c.58-112G>A	ENSP00000501596.1:n.58-112G>A
ENST00000373477.8:c.58-112G>A	ENSP00000362576.4:n.58-112G>A
ENST00000472692.1:n.479G>A
ENST00000481895.5:n.131-112G>A
ENST00000616261.1:c.58-112G>A	ENSP00000484192.1:n.58-112G>A
NM_003680.3:c.58-112G>A , LRG_273t1:c.58-112G>A	NP_003671.1:n.58-112G>A
XM_011542347.1:c.-250-4558G>A	XP_011540649.1:n.-250-4558G>A
XM_011542348.1:c.-297-4558G>A	XP_011540650.1:n.-297-4558G>A
XM_011542347.2:c.-250-4558G>A	XP_011540649.1:n.-250-4558G>A
XM_017002651.2:c.-620-112G>A	XP_016858140.1:n.-620-112G>A
NM_003680.4:c.58-112G>A MANE Select	NP_003671.1:n.58-112G>A