Canonical Allele Identifier: CA2678955132
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44313332-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313332C>A , CM000668.2:g.44313332C>A GRCh38
NC_000006.11:g.44281069C>A , CM000668.1:g.44281069C>A GRCh37
NC_000006.10:g.44389047C>A NCBI36
NG_031952.1:g.4995G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.-9G>T (AARS2) MANE Select ENSP00000244571.4:n.-9G>T
ENST00000505802.1:c.855+5690C>A
XM_005249245.2:c.-9G>T (AARS2) XP_005249302.1:n.-9G>T
XM_011514764.1:c.-9G>T (AARS2) XP_011513066.1:n.-9G>T
XR_241907.2:n.27G>T (AARS2)
XM_005249245.3:c.-9G>T (AARS2) XP_005249302.1:n.-9G>T
XM_011514764.2:c.-9G>T (AARS2) XP_011513066.1:n.-9G>T
NM_020745.4:c.-9G>T (AARS2) MANE Select NP_065796.2:n.-9G>T
NM_001318876.2:c.946-128558C>A (POLR1C) NP_001305805.1:n.946-128558C>A