Canonical Allele Identifier: CA301841691
Community Standard Title: NM_002640.4(SERPINB8):c.307-230C>T
Gene: SERPINB8 HGNC NCBI
HMSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.63981491C>T , CM000680.2:g.63981491C>T GRCh38
NC_000018.9:g.61648725C>T , CM000680.1:g.61648725C>T GRCh37
NC_000018.8:g.59799705C>T NCBI36
NG_052876.1:g.16464C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002640.4:c.307-230C>T (SERPINB8) MANE Select NP_002631.3:n.307-230C>T
ENST00000397985.7:c.307-230C>T (SERPINB8) MANE Select ENSP00000381072.2:n.307-230C>T
NM_001031848.1:c.307-230C>T (SERPINB8) NP_001027018.1:n.307-230C>T
NM_001031848.2:c.307-230C>T (SERPINB8) NP_001027018.1:n.307-230C>T
NM_001276490.1:c.-240-230C>T (SERPINB8) NP_001263419.1:n.-240-230C>T
NM_001276490.2:c.-240-230C>T (SERPINB8) NP_001263419.1:n.-240-230C>T
NM_001348367.1:c.307-230C>T (SERPINB8) NP_001335296.1:n.307-230C>T
NM_001348367.2:c.307-230C>T (SERPINB8) NP_001335296.1:n.307-230C>T
NM_001348368.1:c.307-230C>T (SERPINB8) NP_001335297.1:n.307-230C>T
NM_001348368.2:c.307-230C>T (SERPINB8) NP_001335297.1:n.307-230C>T
NM_001348369.1:c.307-230C>T (SERPINB8) NP_001335298.1:n.307-230C>T
NM_001348369.2:c.307-230C>T (SERPINB8) NP_001335298.1:n.307-230C>T
NM_001348370.1:c.-91-230C>T (SERPINB8) NP_001335299.1:n.-91-230C>T
NM_001348370.2:c.-91-230C>T (SERPINB8) NP_001335299.1:n.-91-230C>T
NM_001366198.1:c.307-230C>T (SERPINB8) NP_001353127.1:n.307-230C>T
NM_002640.3:c.307-230C>T (SERPINB8) NP_002631.3:n.307-230C>T
NM_198833.1:c.307-230C>T (SERPINB8) NP_942130.1:n.307-230C>T
NM_198833.2:c.307-230C>T (SERPINB8) NP_942130.1:n.307-230C>T
NR_145571.1:n.281-230C>T (SERPINB8)
NR_145571.2:n.229-230C>T (SERPINB8)
ENST00000295211.5:c.132-230C>T (SERPINB8)
ENST00000353706.6:c.307-230C>T (SERPINB8) ENSP00000331368.3:n.307-230C>T
ENST00000397985.6:c.307-230C>T (SERPINB8) ENSP00000381072.2:n.307-230C>T
ENST00000397988.7:c.307-230C>T (SERPINB8) ENSP00000381075.3:n.307-230C>T
ENST00000441827.5:c.307-230C>T (SERPINB8) ENSP00000393456.1:n.307-230C>T
ENST00000448851.5:c.307-230C>T (SERPINB8) ENSP00000414580.1:n.307-230C>T
ENST00000481726.1:n.629-230C>T (HMSD)
ENST00000542677.5:c.-240-230C>T (SERPINB8) ENSP00000438328.1:n.-240-230C>T
ENST00000636430.1:c.307-230C>T (SERPINB8) ENSP00000489949.1:n.307-230C>T
XM_006722484.1:c.307-230C>T (SERPINB8) XP_006722547.1:n.307-230C>T
XM_011526025.1:c.307-230C>T (SERPINB8) XP_011524327.1:n.307-230C>T
XM_024451194.1:c.-91-230C>T (SERPINB8) XP_024306962.1:n.-91-230C>T
XM_024451195.1:c.-91-230C>T (SERPINB8) XP_024306963.1:n.-91-230C>T