Canonical Allele Identifier: CA450391513

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313306-T-C
• MyVariant Identifiers: chr6:g.44281043T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313306T>C , CM000668.2:g.44313306T>C	GRCh38
NC_000006.11:g.44281043T>C , CM000668.1:g.44281043T>C	GRCh37
NC_000006.10:g.44389021T>C	NCBI36
NG_031952.1:g.5021A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.18A>G (AARS2) MANE Select	ENSP00000244571.4:p.Ala6=
ENST00000244571.4:c.18A>G (AARS2)	ENSP00000244571.4:p.Ala6=
ENST00000505802.1:c.855+5664T>C
NM_020745.3:c.18A>G (AARS2)	NP_065796.1:p.Ala6=
XM_005249245.2:c.18A>G (AARS2)	XP_005249302.1:p.Ala6=
XM_011514764.1:c.18A>G (AARS2)	XP_011513066.1:p.Ala6=
XR_241907.2:n.53A>G (AARS2)
XM_005249245.3:c.18A>G (AARS2)	XP_005249302.1:p.Ala6=
XM_011514764.2:c.18A>G (AARS2)	XP_011513066.1:p.Ala6=
NM_020745.4:c.18A>G (AARS2) MANE Select	NP_065796.2:p.Ala6=
NM_001318876.2:c.946-128584T>C (POLR1C)	NP_001305805.1:n.946-128584T>C