Canonical Allele Identifier: CA364342117
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44313191-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313191C>T , CM000668.2:g.44313191C>T GRCh38
NC_000006.11:g.44280928C>T , CM000668.1:g.44280928C>T GRCh37
NC_000006.10:g.44388906C>T NCBI36
NG_031952.1:g.5136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.133G>A (AARS2) MANE Select ENSP00000244571.4:p.Ala45Thr
ENST00000244571.4:c.133G>A (AARS2) ENSP00000244571.4:p.Ala45Thr
ENST00000505802.1:c.855+5549C>T
NM_020745.3:c.133G>A (AARS2) NP_065796.1:p.Ala45Thr
XM_005249245.2:c.133G>A (AARS2) XP_005249302.1:p.Ala45Thr
XM_011514764.1:c.133G>A (AARS2) XP_011513066.1:p.Ala45Thr
XR_241907.2:n.168G>A (AARS2)
XM_005249245.3:c.133G>A (AARS2) XP_005249302.1:p.Ala45Thr
XM_011514764.2:c.133G>A (AARS2) XP_011513066.1:p.Ala45Thr
NM_020745.4:c.133G>A (AARS2) MANE Select NP_065796.2:p.Ala45Thr
NM_001318876.2:c.946-128699C>T (POLR1C) NP_001305805.1:n.946-128699C>T