Canonical Allele Identifier: CA2392318

Gene: QARS1

Linked Data

• ClinVar Variation Id: 544146
• ClinVar RCV Id: RCV000655200 ; RCV001577835
• dbSNP Id: rs151099269
• ExAC: 3:49142045 C / T
• gnomAD v2: 3-49142045-C-T
• gnomAD v3: 3-49104612-C-T
• gnomAD v4: 3-49104612-C-T
• MyVariant Identifiers: chr3:g.49142045C>T (hg19) ; chr3:g.49104612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49104612C>T , CM000665.2:g.49104612C>T	GRCh38
NC_000003.11:g.49142045C>T , CM000665.1:g.49142045C>T	GRCh37
NC_000003.10:g.49117049C>T	NCBI36
NG_042312.1:g.5518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306125.12:c.117+5G>A MANE Select	ENSP00000307567.6:n.117+5G>A
ENST00000306125.11:c.117+5G>A	ENSP00000307567.6:n.117+5G>A
ENST00000414533.5:c.117+5G>A	ENSP00000390015.1:n.117+5G>A
ENST00000417025.2:n.143+5G>A
ENST00000418549.3:c.117+5G>A	ENSP00000415247.1:n.117+5G>A
ENST00000430182.5:c.117+5G>A	ENSP00000389823.1:n.117+5G>A
ENST00000452739.5:c.117+5G>A	ENSP00000392850.2:n.117+5G>A
ENST00000470619.6:n.136+5G>A
ENST00000479495.5:n.98-141G>A
ENST00000482261.7:n.193+5G>A
ENST00000482438.2:n.143+5G>A
ENST00000494767.2:c.117+5G>A	ENSP00000489170.1:n.117+5G>A
ENST00000634359.1:n.198-141G>A
ENST00000634527.1:c.-318-141G>A	ENSP00000489039.1:n.-318-141G>A
ENST00000634602.1:c.117+5G>A	ENSP00000489082.1:n.117+5G>A
ENST00000634609.1:n.142+5G>A
ENST00000634724.1:n.141+5G>A
ENST00000634802.1:c.117+5G>A	ENSP00000488917.1:n.117+5G>A
ENST00000634953.1:n.144+5G>A
ENST00000635052.1:c.117+5G>A	ENSP00000489409.1:n.117+5G>A
ENST00000635194.1:c.117+5G>A	ENSP00000488960.1:n.117+5G>A
ENST00000635231.1:c.81+41G>A	ENSP00000489550.1:n.81+41G>A
ENST00000635278.1:n.141+5G>A
ENST00000635443.1:c.117+5G>A	ENSP00000489154.1:n.117+5G>A
ENST00000635494.1:c.117+5G>A	ENSP00000489331.1:n.117+5G>A
ENST00000635501.1:n.507+5G>A
ENST00000635622.1:c.-347+5G>A	ENSP00000489558.1:n.-347+5G>A
NM_001272073.1:c.117+5G>A	NP_001259002.1:n.117+5G>A
NM_005051.2:c.117+5G>A	NP_005042.1:n.117+5G>A
NR_073590.1:n.513+5G>A
XM_011533973.1:c.171+5G>A	XP_011532275.1:n.171+5G>A
XM_017006965.2:c.117+5G>A	XP_016862454.2:n.117+5G>A
NM_005051.3:c.117+5G>A MANE Select	NP_005042.1:n.117+5G>A
NM_001272073.2:c.117+5G>A	NP_001259002.1:n.117+5G>A
NR_073590.2:n.141+5G>A