Canonical Allele Identifier: CA364342115

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786525839
• gnomAD v4: 6-44313191-C-A
• MyVariant Identifiers: chr6:g.44280928C>A (hg19) ; chr6:g.44313191C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.133G>T (AARS2) MANE Select	ENSP00000244571.4:p.Ala45Ser
ENST00000244571.4:c.133G>T (AARS2)	ENSP00000244571.4:p.Ala45Ser
ENST00000505802.1:c.855+5549C>A
NM_020745.3:c.133G>T (AARS2)	NP_065796.1:p.Ala45Ser
XM_005249245.2:c.133G>T (AARS2)	XP_005249302.1:p.Ala45Ser
XM_011514764.1:c.133G>T (AARS2)	XP_011513066.1:p.Ala45Ser
XR_241907.2:n.168G>T (AARS2)
XM_005249245.3:c.133G>T (AARS2)	XP_005249302.1:p.Ala45Ser
XM_011514764.2:c.133G>T (AARS2)	XP_011513066.1:p.Ala45Ser
NM_020745.4:c.133G>T (AARS2) MANE Select	NP_065796.2:p.Ala45Ser
NM_001318876.2:c.946-128699C>A (POLR1C)	NP_001305805.1:n.946-128699C>A