Canonical Allele Identifier: CA2678955201
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44313356-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313356A>G , CM000668.2:g.44313356A>G GRCh38
NC_000006.11:g.44281093A>G , CM000668.1:g.44281093A>G GRCh37
NC_000006.10:g.44389071A>G NCBI36
NG_031952.1:g.4971T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5714A>G
XM_005249245.2:c.-33T>C (AARS2) XP_005249302.1:n.-33T>C
XM_011514764.1:c.-33T>C (AARS2) XP_011513066.1:n.-33T>C
XR_241907.2:n.3T>C (AARS2)
XM_005249245.3:c.-33T>C (AARS2) XP_005249302.1:n.-33T>C
XM_011514764.2:c.-33T>C (AARS2) XP_011513066.1:n.-33T>C
NM_001318876.2:c.946-128534A>G (POLR1C) NP_001305805.1:n.946-128534A>G
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