Canonical Allele Identifier: CA1347655551

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15601805T= , CM000665.2:g.15601805T= GRCh38
NC_000003.11:g.15643312T= , CM000665.1:g.15643312T= GRCh37
NC_000003.10:g.15618316T= NCBI36
NG_008019.1:g.5058T=
NG_008019.2:g.5454T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000671928.2:c.-106T= (BTD) ENSP00000500069.2:n.-106T=
ENST00000672892.2:c.-106T= (BTD) ENSP00000499944.2:n.-106T=
ENST00000303498.10:c.-382T= (BTD) ENSP00000306477.6:n.-382T=
ENST00000417015.3:c.-106T= (BTD) ENSP00000403775.3:n.-106T=
ENST00000427382.2:c.-17+158T= (BTD) ENSP00000397113.2:n.-17+158T=
ENST00000437172.6:c.-294T= (BTD) ENSP00000400995.2:n.-294T=
ENST00000449107.7:c.-17+35T= (BTD) ENSP00000388212.2:n.-17+35T=
ENST00000467027.6:n.42T= (BTD)
ENST00000643237.3:c.-106T= (BTD) MANE Select ENSP00000495254.2:n.-106T=
ENST00000646371.1:c.-293+35T= (BTD) ENSP00000495866.1:n.-293+35T=
ENST00000672065.1:c.-46T= (BTD) ENSP00000500403.1:n.-46T=
ENST00000672112.1:c.-228T= (BTD) ENSP00000500193.1:n.-228T=
ENST00000672141.1:c.-106T= (BTD) ENSP00000500210.1:n.-106T=
ENST00000672336.1:c.-798T= (BTD) ENSP00000500267.1:n.-798T=
ENST00000672427.1:c.-106T= (BTD) ENSP00000500131.1:n.-106T=
ENST00000672760.1:c.-106T= (BTD) ENSP00000500530.1:n.-106T=
ENST00000672968.1:n.20+35T= (BTD)
ENST00000673467.1:c.-106T= (BTD) ENSP00000500288.1:n.-106T=
ENST00000673620.1:c.-17+35T= (BTD) ENSP00000500325.1:n.-17+35T=
ENST00000303498.9:c.-46T= (BTD) ENSP00000306477.5:n.-46T=
ENST00000321169.9:c.-342A= (HACL1) ENSP00000323811.5:n.-342A=
ENST00000417015.1:c.*206T= (BTD) ENSP00000403775.1:n.*206T=
ENST00000427382.1:c.-17+158T= (BTD) ENSP00000397113.1:n.-17+158T=
ENST00000437172.5:c.-228T= (BTD) ENSP00000400995.1:n.-228T=
ENST00000449107.5:c.50+35T= (BTD) ENSP00000388212.1:n.50+35T=
ENST00000467027.5:n.5T= (BTD)
ENST00000471964.5:n.35T= (BTD)
ENST00000480711.1:n.58T= (BTD)
ENST00000494021.1:n.401+35T= (BTD)
ENST00000628377.2:c.-342A= (HACL1) ENSP00000486684.1:n.-342A=
NM_000060.3:c.-46T= (BTD) NP_000051.1:n.-46T=
NM_001281723.1:c.50+35T= (BTD) NP_001268652.1:n.50+35T=
NM_001281724.1:c.-228T= (BTD) NP_001268653.1:n.-228T=
NM_001281726.1:c.-46T= (BTD) NP_001268655.1:n.-46T=
NM_001284413.1:c.-342A= (HACL1) NP_001271342.1:n.-342A=
NM_001284415.1:c.-342A= (HACL1) NP_001271344.1:n.-342A=
NM_001284416.1:c.-342A= (HACL1) NP_001271345.1:n.-342A=
NM_012260.3:c.-342A= (HACL1) NP_036392.2:n.-342A=
NR_104315.1:n.48A= (HACL1)
XM_006713314.2:c.-382T= (BTD) XP_006713377.1:n.-382T=
XM_011534041.1:c.-280T= (BTD) XP_011532343.1:n.-280T=
NM_000060.4:c.-46T= (BTD) NP_000051.1:n.-46T=
NM_001281723.2:c.50+35T= (BTD) NP_001268652.1:n.50+35T=
NM_001281724.2:c.-228T= (BTD) NP_001268653.1:n.-228T=
NM_001323582.1:c.-382T= (BTD) NP_001310511.1:n.-382T=
XM_011534041.2:c.-280T= (BTD) XP_011532343.1:n.-280T=
XM_017007088.1:c.-556T= (BTD) XP_016862577.1:n.-556T=
NM_001281723.3:c.-17+35T= (BTD) NP_001268652.2:n.-17+35T=
NM_001281724.3:c.-294T= (BTD) NP_001268653.2:n.-294T=
NM_001370658.1:c.-106T= (BTD) MANE Select NP_001357587.1:n.-106T=
NM_001370752.1:c.-106T= (BTD) NP_001357681.1:n.-106T=
NM_001370753.1:c.-106T= (BTD) NP_001357682.1:n.-106T=
NM_001281726.2:c.-106T= (BTD) NP_001268655.2:n.-106T=