Canonical Allele Identifier: CA2665690915
Gene: QARS1 HGNC NCBI

Linked Data

gnomAD v4: 3-49104556-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49104556C>T , CM000665.2:g.49104556C>T GRCh38
NC_000003.11:g.49141989C>T , CM000665.1:g.49141989C>T GRCh37
NC_000003.10:g.49116993C>T NCBI36
NG_042312.1:g.5574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306125.12:c.117+61G>A MANE Select ENSP00000307567.6:n.117+61G>A
ENST00000306125.11:c.117+61G>A ENSP00000307567.6:n.117+61G>A
ENST00000414533.5:c.117+61G>A ENSP00000390015.1:n.117+61G>A
ENST00000417025.2:n.143+61G>A
ENST00000418549.3:c.117+61G>A ENSP00000415247.1:n.117+61G>A
ENST00000430182.5:c.117+61G>A ENSP00000389823.1:n.117+61G>A
ENST00000452739.5:c.117+61G>A ENSP00000392850.2:n.117+61G>A
ENST00000470619.6:n.136+61G>A
ENST00000479495.5:n.98-85G>A
ENST00000482261.7:n.193+61G>A
ENST00000482438.2:n.143+61G>A
ENST00000494767.2:c.117+61G>A ENSP00000489170.1:n.117+61G>A
ENST00000634359.1:n.198-85G>A
ENST00000634527.1:c.-318-85G>A ENSP00000489039.1:n.-318-85G>A
ENST00000634602.1:c.117+61G>A ENSP00000489082.1:n.117+61G>A
ENST00000634609.1:n.142+61G>A
ENST00000634724.1:n.141+61G>A
ENST00000634802.1:c.117+61G>A ENSP00000488917.1:n.117+61G>A
ENST00000634953.1:n.144+61G>A
ENST00000635052.1:c.117+61G>A ENSP00000489409.1:n.117+61G>A
ENST00000635194.1:c.117+61G>A ENSP00000488960.1:n.117+61G>A
ENST00000635231.1:c.82-85G>A ENSP00000489550.1:n.82-85G>A
ENST00000635278.1:n.141+61G>A
ENST00000635443.1:c.117+61G>A ENSP00000489154.1:n.117+61G>A
ENST00000635494.1:c.117+61G>A ENSP00000489331.1:n.117+61G>A
ENST00000635501.1:n.507+61G>A
ENST00000635622.1:c.-347+61G>A ENSP00000489558.1:n.-347+61G>A
NM_001272073.1:c.117+61G>A NP_001259002.1:n.117+61G>A
NM_005051.2:c.117+61G>A NP_005042.1:n.117+61G>A
NR_073590.1:n.513+61G>A
XM_011533973.1:c.171+61G>A XP_011532275.1:n.171+61G>A
XM_017006965.2:c.117+61G>A XP_016862454.2:n.117+61G>A
NM_005051.3:c.117+61G>A MANE Select NP_005042.1:n.117+61G>A
NM_001272073.2:c.117+61G>A NP_001259002.1:n.117+61G>A
NR_073590.2:n.141+61G>A