Canonical Allele Identifier: CA985008037
Gene: MPO HGNC NCBI

Linked Data

dbSNP Id: rs375300978
gnomAD v3: 17-58280357-G-T
gnomAD v4: 17-58280357-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58280357G>T , CM000679.2:g.58280357G>T GRCh38
NC_000017.10:g.56357718G>T , CM000679.1:g.56357718G>T GRCh37
NC_000017.9:g.53712717G>T NCBI36
NG_009629.1:g.5579C>A , LRG_84:g.5579C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225275.4:c.248+9C>A MANE Select ENSP00000225275.3:n.248+9C>A
ENST00000225275.3:c.248+9C>A ENSP00000225275.3:n.248+9C>A
ENST00000580005.1:n.186C>A
NM_000250.1:c.248+9C>A , LRG_84t1:c.248+9C>A NP_000241.1:n.248+9C>A
XM_011524821.1:c.434+9C>A XP_011523123.1:n.434+9C>A
XM_011524822.1:c.-38+248C>A XP_011523124.1:n.-38+248C>A
XM_011524823.1:c.434+9C>A XP_011523125.1:n.434+9C>A
NM_000250.2:c.248+9C>A MANE Select NP_000241.1:n.248+9C>A
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