Canonical Allele Identifier: CA1129185447
Gene: MVB12B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126432494A>C , CM000671.2:g.126432494A>C GRCh38
NC_000009.11:g.129194773A>C , CM000671.1:g.129194773A>C GRCh37
NC_000009.10:g.128234594A>C NCBI36
NG_029787.1:g.110651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361171.8:c.757+10546A>C MANE Select ENSP00000354772.3:n.757+10546A>C
ENST00000361171.7:c.757+10546A>C ENSP00000354772.3:n.757+10546A>C
ENST00000470567.5:n.153+10546A>C
ENST00000489570.1:n.95+10546A>C
NM_033446.2:c.757+10546A>C NP_258257.1:n.757+10546A>C
XM_005252297.1:c.712+10546A>C XP_005252354.1:n.712+10546A>C
XM_011519175.1:c.892+10546A>C XP_011517477.1:n.892+10546A>C
XM_011519176.1:c.847+10546A>C XP_011517478.1:n.847+10546A>C
XM_011519177.1:c.892+10546A>C XP_011517479.1:n.892+10546A>C
XM_011519178.1:c.757+10546A>C XP_011517480.1:n.757+10546A>C
XM_017015275.2:c.757+10546A>C XP_016870764.1:n.757+10546A>C
XM_017015276.1:c.712+10546A>C XP_016870765.1:n.712+10546A>C
XM_017015277.2:c.757+10546A>C XP_016870766.1:n.757+10546A>C
XM_017015278.2:c.662+36797A>C XP_016870767.1:n.662+36797A>C
XM_017015279.1:c.418+10546A>C XP_016870768.1:n.418+10546A>C
XM_024447711.1:c.664+10546A>C XP_024303479.1:n.664+10546A>C
NM_033446.3:c.757+10546A>C MANE Select NP_258257.1:n.757+10546A>C