Canonical Allele Identifier: CA1347655490

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15601715G= , CM000665.2:g.15601715G= GRCh38
NC_000003.11:g.15643222G= , CM000665.1:g.15643222G= GRCh37
NC_000003.10:g.15618226G= NCBI36
NG_008019.1:g.4968G=
NG_008019.2:g.5364G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000427382.2:c.-17+68G= (BTD) ENSP00000397113.2:n.-17+68G=
ENST00000449107.7:c.-72G= (BTD) ENSP00000388212.2:n.-72G=
ENST00000321169.9:c.-252C= (HACL1) ENSP00000323811.5:n.-252C=
ENST00000417015.1:c.*116G= (BTD) ENSP00000403775.1:n.*116G=
ENST00000427382.1:c.-17+68G= (BTD) ENSP00000397113.1:n.-17+68G=
ENST00000449107.5:c.-6G= (BTD) ENSP00000388212.1:n.-6G=
ENST00000494021.1:n.346G= (BTD)
ENST00000628377.2:c.-252C= (HACL1) ENSP00000486684.1:n.-252C=
NM_001281723.1:c.-6G= (BTD) NP_001268652.1:n.-6G=
NM_001284413.1:c.-252C= (HACL1) NP_001271342.1:n.-252C=
NM_001284415.1:c.-252C= (HACL1) NP_001271344.1:n.-252C=
NM_001284416.1:c.-252C= (HACL1) NP_001271345.1:n.-252C=
NM_012260.3:c.-252C= (HACL1) NP_036392.2:n.-252C=
NR_104315.1:n.138C= (HACL1)
NM_001281723.2:c.-6G= (BTD) NP_001268652.1:n.-6G=
NM_001281723.3:c.-72G= (BTD) NP_001268652.2:n.-72G=