Canonical Allele Identifier: CA2678955136
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44313333-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313333G>T , CM000668.2:g.44313333G>T GRCh38
NC_000006.11:g.44281070G>T , CM000668.1:g.44281070G>T GRCh37
NC_000006.10:g.44389048G>T NCBI36
NG_031952.1:g.4994C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.-10C>A (AARS2) MANE Select ENSP00000244571.4:n.-10C>A
ENST00000505802.1:c.855+5691G>T
XM_005249245.2:c.-10C>A (AARS2) XP_005249302.1:n.-10C>A
XM_011514764.1:c.-10C>A (AARS2) XP_011513066.1:n.-10C>A
XR_241907.2:n.26C>A (AARS2)
XM_005249245.3:c.-10C>A (AARS2) XP_005249302.1:n.-10C>A
XM_011514764.2:c.-10C>A (AARS2) XP_011513066.1:n.-10C>A
NM_020745.4:c.-10C>A (AARS2) MANE Select NP_065796.2:n.-10C>A
NM_001318876.2:c.946-128557G>T (POLR1C) NP_001305805.1:n.946-128557G>T