Canonical Allele Identifier: CA12012777
Gene: HMGXB3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.150027170G>T
GRCh37 chr5:g.149406733G>T
gnomAD v2:
5:149406733 G / T
gnomAD v3:
5:150027170 G / T
gnomAD v4:
chr5-150027170-G-T
Joint Max Group AF 0.83229246 (AFR)
Genomes Max Group AF 0.82954193 (AFR)
Exomes Max Group AF 0.83061268 (AFR)
dbSNP:
2304069
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150027170G>T , CM000667.2:g.150027170G>T GRCh38
NC_000005.9:g.149406733G>T , CM000667.1:g.149406733G>T GRCh37
NC_000005.8:g.149386926G>T NCBI36
NG_021389.1:g.31565G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502717.6:c.1734+53G>T MANE Select ENSP00000421917.1:n.1734+53G>T
ENST00000502717.5:c.1734+53G>T ENSP00000421917.1:n.1734+53G>T
ENST00000503427.5:c.1638+53G>T ENSP00000422231.1:n.1638+53G>T
ENST00000514469.1:c.55+53G>T
ENST00000613459.4:c.2472+53G>T ENSP00000479027.1:n.2472+53G>T
NM_014983.2:c.1734+53G>T NP_055798.2:n.1734+53G>T
XM_006714765.2:c.1236+53G>T XP_006714828.1:n.1236+53G>T
XM_006714766.2:c.1137+53G>T XP_006714829.1:n.1137+53G>T
NM_001366501.1:c.1236+53G>T NP_001353430.1:n.1236+53G>T
XR_001742043.2:n.2305+53G>T
NM_014983.3:c.1734+53G>T MANE Select NP_055798.3:n.1734+53G>T
NM_001366501.2:c.1236+53G>T NP_001353430.1:n.1236+53G>T
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