Canonical Allele Identifier: CA567154601
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1005687708
gnomAD v2: 6-44281085-G-A
gnomAD v4: 6-44313348-G-A
MyVariant Identifiers: chr6:g.44281085G>A (hg19) chr6:g.44313348G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313348G>A , CM000668.2:g.44313348G>A GRCh38
NC_000006.11:g.44281085G>A , CM000668.1:g.44281085G>A GRCh37
NC_000006.10:g.44389063G>A NCBI36
NG_031952.1:g.4979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5706G>A
XM_005249245.2:c.-25C>T (AARS2) XP_005249302.1:n.-25C>T
XM_011514764.1:c.-25C>T (AARS2) XP_011513066.1:n.-25C>T
XR_241907.2:n.11C>T (AARS2)
XM_005249245.3:c.-25C>T (AARS2) XP_005249302.1:n.-25C>T
XM_011514764.2:c.-25C>T (AARS2) XP_011513066.1:n.-25C>T
NM_001318876.2:c.946-128542G>A (POLR1C) NP_001305805.1:n.946-128542G>A
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