Canonical Allele Identifier: CA1624932141
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs776287063
gnomAD v4: 6-44313353-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313353C>T , CM000668.2:g.44313353C>T GRCh38
NC_000006.11:g.44281090C>T , CM000668.1:g.44281090C>T GRCh37
NC_000006.10:g.44389068C>T NCBI36
NG_031952.1:g.4974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5711C>T
XM_005249245.2:c.-30G>A (AARS2) XP_005249302.1:n.-30G>A
XM_011514764.1:c.-30G>A (AARS2) XP_011513066.1:n.-30G>A
XR_241907.2:n.6G>A (AARS2)
XM_005249245.3:c.-30G>A (AARS2) XP_005249302.1:n.-30G>A
XM_011514764.2:c.-30G>A (AARS2) XP_011513066.1:n.-30G>A
NM_001318876.2:c.946-128537C>T (POLR1C) NP_001305805.1:n.946-128537C>T
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