Canonical Allele Identifier: CA1624932148
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313355A= , CM000668.2:g.44313355A= GRCh38
NC_000006.11:g.44281092A= , CM000668.1:g.44281092A= GRCh37
NC_000006.10:g.44389070A= NCBI36
NG_031952.1:g.4972T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5713A=
XM_005249245.2:c.-32T= (AARS2) XP_005249302.1:n.-32T=
XM_011514764.1:c.-32T= (AARS2) XP_011513066.1:n.-32T=
XR_241907.2:n.4T= (AARS2)
XM_005249245.3:c.-32T= (AARS2) XP_005249302.1:n.-32T=
XM_011514764.2:c.-32T= (AARS2) XP_011513066.1:n.-32T=
NM_001318876.2:c.946-128535A= (POLR1C) NP_001305805.1:n.946-128535A=