Canonical Allele Identifier: CA2755336793

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601586A>C , CM000665.2:g.15601586A>C	GRCh38
NC_000003.11:g.15643093A>C , CM000665.1:g.15643093A>C	GRCh37
NC_000003.10:g.15618097A>C	NCBI36
NG_008019.1:g.4839A>C
NG_008019.2:g.5235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-78A>C (BTD)	ENSP00000397113.2:n.-78A>C
ENST00000449107.7:c.-201A>C (BTD)	ENSP00000388212.2:n.-201A>C
ENST00000321169.9:c.-123T>G (HACL1)	ENSP00000323811.5:n.-123T>G
ENST00000417015.1:c.182A>C (BTD)	ENSP00000403775.1:p.Asn61Thr
ENST00000421993.5:c.-123T>G (HACL1)	ENSP00000391393.1:n.-123T>G
ENST00000427382.1:c.-78A>C (BTD)	ENSP00000397113.1:n.-78A>C
ENST00000451445.6:c.-123T>G (HACL1)	ENSP00000403656.2:n.-123T>G
ENST00000494021.1:n.217A>C (BTD)
ENST00000628377.2:c.-123T>G (HACL1)	ENSP00000486684.1:n.-123T>G
NM_001281723.1:c.-135A>C (BTD)	NP_001268652.1:n.-135A>C
NM_001284413.1:c.-123T>G (HACL1)	NP_001271342.1:n.-123T>G
NM_001284415.1:c.-123T>G (HACL1)	NP_001271344.1:n.-123T>G
NM_001284416.1:c.-123T>G (HACL1)	NP_001271345.1:n.-123T>G
NM_012260.3:c.-123T>G (HACL1)	NP_036392.2:n.-123T>G
NR_104315.1:n.267T>G (HACL1)
NM_001281723.2:c.-135A>C (BTD)	NP_001268652.1:n.-135A>C
NM_001281723.3:c.-201A>C (BTD)	NP_001268652.2:n.-201A>C