Canonical Allele Identifier: CA2392306

Gene: QARS1

Linked Data

• dbSNP Id: rs566679757
• ExAC: 3:49141951 A / G
• gnomAD v2: 3-49141951-A-G
• gnomAD v3: 3-49104518-A-G
• gnomAD v4: 3-49104518-A-G
• MyVariant Identifiers: chr3:g.49141951A>G (hg19) ; chr3:g.49104518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49104518A>G , CM000665.2:g.49104518A>G	GRCh38
NC_000003.11:g.49141951A>G , CM000665.1:g.49141951A>G	GRCh37
NC_000003.10:g.49116955A>G	NCBI36
NG_042312.1:g.5612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306125.12:c.118-47T>C MANE Select	ENSP00000307567.6:n.118-47T>C
ENST00000306125.11:c.118-47T>C	ENSP00000307567.6:n.118-47T>C
ENST00000414533.5:c.118-47T>C	ENSP00000390015.1:n.118-47T>C
ENST00000417025.2:n.144-47T>C
ENST00000418549.3:c.118-47T>C	ENSP00000415247.1:n.118-47T>C
ENST00000430182.5:c.118-47T>C	ENSP00000389823.1:n.118-47T>C
ENST00000452739.5:c.118-47T>C	ENSP00000392850.2:n.118-47T>C
ENST00000464962.6:c.-365T>C	ENSP00000489011.1:n.-365T>C
ENST00000470619.6:n.137-47T>C
ENST00000479495.5:n.98-47T>C
ENST00000482261.7:n.194-47T>C
ENST00000482438.2:n.144-47T>C
ENST00000494767.2:c.118-47T>C	ENSP00000489170.1:n.118-47T>C
ENST00000634359.1:n.198-47T>C
ENST00000634527.1:c.-318-47T>C	ENSP00000489039.1:n.-318-47T>C
ENST00000634602.1:c.118-47T>C	ENSP00000489082.1:n.118-47T>C
ENST00000634609.1:n.143-47T>C
ENST00000634724.1:n.142-47T>C
ENST00000634802.1:c.117+99T>C	ENSP00000488917.1:n.117+99T>C
ENST00000634953.1:n.145-47T>C
ENST00000635052.1:c.118-47T>C	ENSP00000489409.1:n.118-47T>C
ENST00000635194.1:c.118-53T>C	ENSP00000488960.1:n.118-53T>C
ENST00000635231.1:c.82-47T>C	ENSP00000489550.1:n.82-47T>C
ENST00000635278.1:n.142-47T>C
ENST00000635375.1:n.15T>C
ENST00000635443.1:c.118-47T>C	ENSP00000489154.1:n.118-47T>C
ENST00000635494.1:c.118-47T>C	ENSP00000489331.1:n.118-47T>C
ENST00000635501.1:n.508-47T>C
ENST00000635622.1:c.-346-47T>C	ENSP00000489558.1:n.-346-47T>C
NM_001272073.1:c.118-47T>C	NP_001259002.1:n.118-47T>C
NM_005051.2:c.118-47T>C	NP_005042.1:n.118-47T>C
NR_073590.1:n.514-47T>C
XM_011533973.1:c.172-47T>C	XP_011532275.1:n.172-47T>C
XM_017006965.2:c.118-47T>C	XP_016862454.2:n.118-47T>C
NM_005051.3:c.118-47T>C MANE Select	NP_005042.1:n.118-47T>C
NM_001272073.2:c.118-47T>C	NP_001259002.1:n.118-47T>C
NR_073590.2:n.142-47T>C