Canonical Allele Identifier: CA352723792

Gene: QARS1

Linked Data

• dbSNP Id: rs1457710626
• gnomAD v2: 3-49142085-C-G
• MyVariant Identifiers: chr3:g.49142085C>G (hg19) ; chr3:g.49104652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49104652C>G , CM000665.2:g.49104652C>G	GRCh38
NC_000003.11:g.49142085C>G , CM000665.1:g.49142085C>G	GRCh37
NC_000003.10:g.49117089C>G	NCBI36
NG_042312.1:g.5478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306125.12:c.82G>C MANE Select	ENSP00000307567.6:p.Ala28Pro
ENST00000306125.11:c.82G>C	ENSP00000307567.6:p.Ala28Pro
ENST00000414533.5:c.82G>C	ENSP00000390015.1:p.Ala28Pro
ENST00000417025.2:n.108G>C
ENST00000418549.3:c.82G>C	ENSP00000415247.1:p.Ala28Pro
ENST00000430182.5:c.82G>C	ENSP00000389823.1:p.Ala28Pro
ENST00000452739.5:c.82G>C	ENSP00000392850.2:p.Ala28Pro
ENST00000470619.6:n.101G>C
ENST00000479495.5:n.98-181G>C
ENST00000482261.7:n.158G>C
ENST00000482438.2:n.108G>C
ENST00000494767.2:c.82G>C	ENSP00000489170.1:p.Ala28Pro
ENST00000634359.1:n.198-181G>C
ENST00000634527.1:c.-318-181G>C	ENSP00000489039.1:n.-318-181G>C
ENST00000634602.1:c.82G>C	ENSP00000489082.1:p.Ala28Pro
ENST00000634609.1:n.107G>C
ENST00000634724.1:n.106G>C
ENST00000634802.1:c.82G>C	ENSP00000488917.1:p.Ala28Pro
ENST00000634953.1:n.109G>C
ENST00000635052.1:c.82G>C	ENSP00000489409.1:p.Ala28Pro
ENST00000635194.1:c.82G>C	ENSP00000488960.1:p.Ala28Pro
ENST00000635231.1:c.81+1G>C	ENSP00000489550.1:n.81+1G>C
ENST00000635278.1:n.106G>C
ENST00000635443.1:c.82G>C	ENSP00000489154.1:p.Ala28Pro
ENST00000635494.1:c.82G>C	ENSP00000489331.1:p.Ala28Pro
ENST00000635501.1:n.472G>C
ENST00000635622.1:c.-382G>C	ENSP00000489558.1:n.-382G>C
NM_001272073.1:c.82G>C	NP_001259002.1:p.Ala28Pro
NM_005051.2:c.82G>C	NP_005042.1:p.Ala28Pro
NR_073590.1:n.478G>C
XM_011533973.1:c.136G>C	XP_011532275.1:p.Ala46Pro
XM_017006965.2:c.82G>C	XP_016862454.2:p.Ala28Pro
NM_005051.3:c.82G>C MANE Select	NP_005042.1:p.Ala28Pro
NM_001272073.2:c.82G>C	NP_001259002.1:p.Ala28Pro
NR_073590.2:n.106G>C