Canonical Allele Identifier: CA2391922

Gene: QARS1

Linked Data

• ClinVar Variation Id: 380004
• ClinVar RCV Id: RCV000445289 ; RCV001513530
• dbSNP Id: rs4521268
• ExAC: 3:49137904 G / T
• gnomAD v2: 3-49137904-G-T
• gnomAD v3: 3-49100471-G-T
• gnomAD v4: 3-49100471-G-T
• MyVariant Identifiers: chr3:g.49137904G>T (hg19) ; chr3:g.49100471G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49100471G>T , CM000665.2:g.49100471G>T	GRCh38
NC_000003.11:g.49137904G>T , CM000665.1:g.49137904G>T	GRCh37
NC_000003.10:g.49112908G>T	NCBI36
NG_042312.1:g.9659C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306125.12:c.977-13C>A MANE Select	ENSP00000307567.6:n.977-13C>A
ENST00000636018.1:c.760-13C>A	ENSP00000489930.1:n.760-13C>A
ENST00000636669.1:c.809-13C>A	ENSP00000490664.1:n.809-13C>A
ENST00000637543.1:n.817-13C>A
ENST00000306125.11:c.977-13C>A	ENSP00000307567.6:n.977-13C>A
ENST00000414533.5:c.944-13C>A	ENSP00000390015.1:n.944-13C>A
ENST00000430182.5:c.*625-13C>A	ENSP00000389823.1:n.*625-13C>A
ENST00000464962.6:c.542-13C>A	ENSP00000489011.1:n.542-13C>A
ENST00000470225.6:n.513-13C>A
ENST00000478561.5:n.94-13C>A
ENST00000494838.6:n.764-13C>A
ENST00000635443.1:c.890-13C>A	ENSP00000489154.1:n.890-13C>A
NM_001272073.1:c.944-13C>A	NP_001259002.1:n.944-13C>A
NM_005051.2:c.977-13C>A	NP_005042.1:n.977-13C>A
NR_073590.1:n.1324-13C>A
XM_011533973.1:c.1031-13C>A	XP_011532275.1:n.1031-13C>A
XM_017006965.2:c.977-13C>A	XP_016862454.2:n.977-13C>A
NM_005051.3:c.977-13C>A MANE Select	NP_005042.1:n.977-13C>A
NM_001272073.2:c.944-13C>A	NP_001259002.1:n.944-13C>A
NR_073590.2:n.952-13C>A