Canonical Allele Identifier: CA364342165

Gene: AARS2 POLR1C

Linked Data

• ClinVar Variation Id: 1461529
• ClinVar RCV Id: RCV001983357 ; RCV002564422
• dbSNP Id: rs1786528628
• gnomAD v4: 6-44313215-C-T
• MyVariant Identifiers: chr6:g.44280952C>T (hg19) ; chr6:g.44313215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313215C>T , CM000668.2:g.44313215C>T	GRCh38
NC_000006.11:g.44280952C>T , CM000668.1:g.44280952C>T	GRCh37
NC_000006.10:g.44388930C>T	NCBI36
NG_031952.1:g.5112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.109G>A (AARS2) MANE Select	ENSP00000244571.4:p.Ala37Thr
ENST00000244571.4:c.109G>A (AARS2)	ENSP00000244571.4:p.Ala37Thr
ENST00000505802.1:c.855+5573C>T
NM_020745.3:c.109G>A (AARS2)	NP_065796.1:p.Ala37Thr
XM_005249245.2:c.109G>A (AARS2)	XP_005249302.1:p.Ala37Thr
XM_011514764.1:c.109G>A (AARS2)	XP_011513066.1:p.Ala37Thr
XR_241907.2:n.144G>A (AARS2)
XM_005249245.3:c.109G>A (AARS2)	XP_005249302.1:p.Ala37Thr
XM_011514764.2:c.109G>A (AARS2)	XP_011513066.1:p.Ala37Thr
NM_020745.4:c.109G>A (AARS2) MANE Select	NP_065796.2:p.Ala37Thr
NM_001318876.2:c.946-128675C>T (POLR1C)	NP_001305805.1:n.946-128675C>T