Canonical Allele Identifier: CA364342128
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44313196-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313196C>T , CM000668.2:g.44313196C>T GRCh38
NC_000006.11:g.44280933C>T , CM000668.1:g.44280933C>T GRCh37
NC_000006.10:g.44388911C>T NCBI36
NG_031952.1:g.5131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.128G>A (AARS2) MANE Select ENSP00000244571.4:p.Arg43Lys
ENST00000244571.4:c.128G>A (AARS2) ENSP00000244571.4:p.Arg43Lys
ENST00000505802.1:c.855+5554C>T
NM_020745.3:c.128G>A (AARS2) NP_065796.1:p.Arg43Lys
XM_005249245.2:c.128G>A (AARS2) XP_005249302.1:p.Arg43Lys
XM_011514764.1:c.128G>A (AARS2) XP_011513066.1:p.Arg43Lys
XR_241907.2:n.163G>A (AARS2)
XM_005249245.3:c.128G>A (AARS2) XP_005249302.1:p.Arg43Lys
XM_011514764.2:c.128G>A (AARS2) XP_011513066.1:p.Arg43Lys
NM_020745.4:c.128G>A (AARS2) MANE Select NP_065796.2:p.Arg43Lys
NM_001318876.2:c.946-128694C>T (POLR1C) NP_001305805.1:n.946-128694C>T