Canonical Allele Identifier: CA1347655564

Linked Data

dbSNP Id: rs765366331

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15601814C>A , CM000665.2:g.15601814C>A GRCh38
NC_000003.11:g.15643321C>A , CM000665.1:g.15643321C>A GRCh37
NC_000003.10:g.15618325C>A NCBI36
NG_008019.1:g.5067C>A
NG_008019.2:g.5463C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000671928.2:c.-97C>A (BTD) ENSP00000500069.2:n.-97C>A
ENST00000672892.2:c.-97C>A (BTD) ENSP00000499944.2:n.-97C>A
ENST00000303498.10:c.-373C>A (BTD) ENSP00000306477.6:n.-373C>A
ENST00000417015.3:c.-97C>A (BTD) ENSP00000403775.3:n.-97C>A
ENST00000427382.2:c.-17+167C>A (BTD) ENSP00000397113.2:n.-17+167C>A
ENST00000437172.6:c.-285C>A (BTD) ENSP00000400995.2:n.-285C>A
ENST00000449107.7:c.-17+44C>A (BTD) ENSP00000388212.2:n.-17+44C>A
ENST00000467027.6:n.51C>A (BTD)
ENST00000643237.3:c.-97C>A (BTD) MANE Select ENSP00000495254.2:n.-97C>A
ENST00000646371.1:c.-293+44C>A (BTD) ENSP00000495866.1:n.-293+44C>A
ENST00000672065.1:c.-37C>A (BTD) ENSP00000500403.1:n.-37C>A
ENST00000672112.1:c.-219C>A (BTD) ENSP00000500193.1:n.-219C>A
ENST00000672141.1:c.-97C>A (BTD) ENSP00000500210.1:n.-97C>A
ENST00000672336.1:c.-789C>A (BTD) ENSP00000500267.1:n.-789C>A
ENST00000672427.1:c.-97C>A (BTD) ENSP00000500131.1:n.-97C>A
ENST00000672760.1:c.-97C>A (BTD) ENSP00000500530.1:n.-97C>A
ENST00000672968.1:n.20+44C>A (BTD)
ENST00000673467.1:c.-97C>A (BTD) ENSP00000500288.1:n.-97C>A
ENST00000673620.1:c.-17+44C>A (BTD) ENSP00000500325.1:n.-17+44C>A
ENST00000303498.9:c.-37C>A (BTD) ENSP00000306477.5:n.-37C>A
ENST00000321169.9:c.-351G>T (HACL1) ENSP00000323811.5:n.-351G>T
ENST00000417015.1:c.*215C>A (BTD) ENSP00000403775.1:n.*215C>A
ENST00000427382.1:c.-17+167C>A (BTD) ENSP00000397113.1:n.-17+167C>A
ENST00000437172.5:c.-219C>A (BTD) ENSP00000400995.1:n.-219C>A
ENST00000449107.5:c.50+44C>A (BTD) ENSP00000388212.1:n.50+44C>A
ENST00000467027.5:n.14C>A (BTD)
ENST00000471964.5:n.44C>A (BTD)
ENST00000480711.1:n.67C>A (BTD)
ENST00000494021.1:n.401+44C>A (BTD)
ENST00000628377.2:c.-351G>T (HACL1) ENSP00000486684.1:n.-351G>T
NM_000060.3:c.-37C>A (BTD) NP_000051.1:n.-37C>A
NM_001281723.1:c.50+44C>A (BTD) NP_001268652.1:n.50+44C>A
NM_001281724.1:c.-219C>A (BTD) NP_001268653.1:n.-219C>A
NM_001281726.1:c.-37C>A (BTD) NP_001268655.1:n.-37C>A
NM_001284413.1:c.-351G>T (HACL1) NP_001271342.1:n.-351G>T
NM_001284415.1:c.-351G>T (HACL1) NP_001271344.1:n.-351G>T
NM_001284416.1:c.-351G>T (HACL1) NP_001271345.1:n.-351G>T
NM_012260.3:c.-351G>T (HACL1) NP_036392.2:n.-351G>T
NR_104315.1:n.39G>T (HACL1)
XM_006713314.2:c.-373C>A (BTD) XP_006713377.1:n.-373C>A
XM_011534041.1:c.-271C>A (BTD) XP_011532343.1:n.-271C>A
NM_000060.4:c.-37C>A (BTD) NP_000051.1:n.-37C>A
NM_001281723.2:c.50+44C>A (BTD) NP_001268652.1:n.50+44C>A
NM_001281724.2:c.-219C>A (BTD) NP_001268653.1:n.-219C>A
NM_001323582.1:c.-373C>A (BTD) NP_001310511.1:n.-373C>A
XM_011534041.2:c.-271C>A (BTD) XP_011532343.1:n.-271C>A
XM_017007088.1:c.-547C>A (BTD) XP_016862577.1:n.-547C>A
NM_001281723.3:c.-17+44C>A (BTD) NP_001268652.2:n.-17+44C>A
NM_001281724.3:c.-285C>A (BTD) NP_001268653.2:n.-285C>A
NM_001370658.1:c.-97C>A (BTD) MANE Select NP_001357587.1:n.-97C>A
NM_001370752.1:c.-97C>A (BTD) NP_001357681.1:n.-97C>A
NM_001370753.1:c.-97C>A (BTD) NP_001357682.1:n.-97C>A
NM_001281726.2:c.-97C>A (BTD) NP_001268655.2:n.-97C>A