Canonical Allele Identifier: CA364340757
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44310999G>C , CM000668.2:g.44310999G>C GRCh38
NC_000006.11:g.44278736G>C , CM000668.1:g.44278736G>C GRCh37
NC_000006.10:g.44386714G>C NCBI36
NG_031952.1:g.7328C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.744C>G (AARS2) MANE Select ENSP00000244571.4:p.His248Gln
ENST00000244571.4:c.744C>G (AARS2) ENSP00000244571.4:p.His248Gln
ENST00000505802.1:c.855+3357G>C
NM_020745.3:c.744C>G (AARS2) NP_065796.1:p.His248Gln
XM_005249245.2:c.744C>G (AARS2) XP_005249302.1:p.His248Gln
XM_011514764.1:c.744C>G (AARS2) XP_011513066.1:p.His248Gln
XR_241907.2:n.779C>G (AARS2)
XM_005249245.3:c.744C>G (AARS2) XP_005249302.1:p.His248Gln
XM_011514764.2:c.744C>G (AARS2) XP_011513066.1:p.His248Gln
XM_017011112.1:c.-275C>G (AARS2) XP_016866601.1:n.-275C>G
NM_020745.4:c.744C>G (AARS2) MANE Select NP_065796.2:p.His248Gln
NM_001318876.2:c.946-130891G>C (POLR1C) NP_001305805.1:n.946-130891G>C