Canonical Allele Identifier: CA3834759
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 357083
ClinVar RCV Id: RCV000341558 RCV002524491 RCV003221955
dbSNP Id: rs537231845
ExAC: 6:44281036 C / T
gnomAD v2: 6-44281036-C-T
gnomAD v3: 6-44313299-C-T
gnomAD v4: 6-44313299-C-T
MyVariant Identifiers: chr6:g.44281036C>T (hg19) chr6:g.44313299C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313299C>T , CM000668.2:g.44313299C>T GRCh38
NC_000006.11:g.44281036C>T , CM000668.1:g.44281036C>T GRCh37
NC_000006.10:g.44389014C>T NCBI36
NG_031952.1:g.5028G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.25G>A (AARS2) MANE Select ENSP00000244571.4:p.Ala9Thr
ENST00000244571.4:c.25G>A (AARS2) ENSP00000244571.4:p.Ala9Thr
ENST00000505802.1:c.855+5657C>T
NM_020745.3:c.25G>A (AARS2) NP_065796.1:p.Ala9Thr
XM_005249245.2:c.25G>A (AARS2) XP_005249302.1:p.Ala9Thr
XM_011514764.1:c.25G>A (AARS2) XP_011513066.1:p.Ala9Thr
XR_241907.2:n.60G>A (AARS2)
XM_005249245.3:c.25G>A (AARS2) XP_005249302.1:p.Ala9Thr
XM_011514764.2:c.25G>A (AARS2) XP_011513066.1:p.Ala9Thr
NM_020745.4:c.25G>A (AARS2) MANE Select NP_065796.2:p.Ala9Thr
NM_001318876.2:c.946-128591C>T (POLR1C) NP_001305805.1:n.946-128591C>T
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