Canonical Allele Identifier: CA3834738

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs763818983
• ExAC: 6:44280940 C / T
• gnomAD v2: 6-44280940-C-T
• gnomAD v4: 6-44313203-C-T
• MyVariant Identifiers: chr6:g.44280940C>T (hg19) ; chr6:g.44313203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313203C>T , CM000668.2:g.44313203C>T	GRCh38
NC_000006.11:g.44280940C>T , CM000668.1:g.44280940C>T	GRCh37
NC_000006.10:g.44388918C>T	NCBI36
NG_031952.1:g.5124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.121G>A (AARS2) MANE Select	ENSP00000244571.4:p.Ala41Thr
ENST00000244571.4:c.121G>A (AARS2)	ENSP00000244571.4:p.Ala41Thr
ENST00000505802.1:c.855+5561C>T
NM_020745.3:c.121G>A (AARS2)	NP_065796.1:p.Ala41Thr
XM_005249245.2:c.121G>A (AARS2)	XP_005249302.1:p.Ala41Thr
XM_011514764.1:c.121G>A (AARS2)	XP_011513066.1:p.Ala41Thr
XR_241907.2:n.156G>A (AARS2)
XM_005249245.3:c.121G>A (AARS2)	XP_005249302.1:p.Ala41Thr
XM_011514764.2:c.121G>A (AARS2)	XP_011513066.1:p.Ala41Thr
NM_020745.4:c.121G>A (AARS2) MANE Select	NP_065796.2:p.Ala41Thr
NM_001318876.2:c.946-128687C>T (POLR1C)	NP_001305805.1:n.946-128687C>T